Sunday, August 22, 2010 11:27 PM, CDT
Before I get into the update on Duke and the FDA, I would like to announce that our web site and 501(c)(3) non-profit organization is now live and you can follow Gabe’s journey at: www.hopeforgabe.org. Please go to the site and forward to your entire email distribution list. There is a donation button, updates on Gabe, DMD information, Hope for Gabe merchandise for purchase, an information database, etc.
But now to the FDA…I have put this off for as long as I can as I am starting to lose faith in the Duke protocol. Dr. K contacted me around July 31st and stated that the FDA came back yet again with questions about the potential protocol for Gabe and she was shocked. This means it is delayed at least another 60 days. I must admit, with all the other trials that are taking place and the advancements that are being made with these trials, it is difficult to think of Gabe going through chemo and radiation at Duke for a procedure the FDA continues to question. There are many DMD families out there that may be disappointed in my comments but the FDA is responsible for keeping the safety of all patients in mind. I know she has done incredible things with metabolic disorders but there are still so many questions around stem cell treatments for DMD. Dr. K is a brilliant doctor but without FDA approval, there is nothing for us to consider and every time they delay it, our minds wonder and question if it will work. I think this is human nature.
I want to send out a special thanks to several coaches that I currently coach with in different sports. I want to thank Will Griffin, Dennis Wood, Rich Bartlewski, Jeff Alexander, and Donnie Maddux for dedicating the Chelsea White Hornets 105lb football team’s season to Gabe and possibly putting patches on the kid’s jerseys that say H4G with the web address underneath H4G to raise awareness. We are honored even if it does not work out. Thanks goes out to another coach I coach with, Jim Baker, for dedicating Cooper’s team’s season to Gabe as well. He got Gabe a jersey to be part of our team…WOW! Another kudos goes out to yet another coach I coach with, Adam Metzger, who has agreed to coach Gabe’s fall ball baseball team. He was going to do softball with his daughter but when he found out that I wanted Gabe to play normal fall ball baseball he said there is no way he would miss Gabe playing and wanted to coach! We are so blessed to be around creative folks that come up with these unique ways to get the H4G word out and want to be a part of special moments in Gabe’s life. It is awesome to see 5 year old Gabe touching these folks in such an incredible manner.
To wrap up, please start visiting www.hopeforgabe.org on a regular basis and forward this web address to EVERYONE in your contact list. This is what you can do to spread the word and raise awareness! Thanks for all you do and make sure you watch the videos at www.hopeforgabe.org.
Gabe’s Dad
Sunday, July 4, 2010 11:32 PM, CDT
Traci and I made one of the hardest decisions we have had to make in Gabe’s Journey to date. We had to make the decision to start Gabe on steroids or not. If Duke had their preference, they would want us to hold off, but all the other trials out there (Exon Skipping, Utrophin, etc.) require steroid use for at least one year prior to enrollment with a steady dose for at least 6 months. We have thought long and hard on this one as well as prayed every day for an answer. After Traci attended the CONNECT conference in Denver that Parent Project Muscular Dystrophy put on, she came back with a ton of information regarding steroids and every bit of it was positive. She called me the day she got out there crying really bad. She said the first thing she saw when she walked in the hotel lobby was a 10 year old boy in a wheel chair and she was not ready for that. However, every single speaker she heard put her in a better place and for one of the few times, I heard major optimism in her voice…YEA! She said the steroid discussion was one of the most positively intriguing. As a result, we bit the bullet and started him on Deflazacort (steroid from England) Thursday. It may be psychological, but his energy is way higher, his climbing ability is better, his running speed has picked up, and he is starting to look like a normal little boy! Because he’s on steroids, we have to watch his calcium, sodium, calories, vitamin D, fluids, fats, and sugars DAILY so if anyone has any good low sodium, low fat recipes, please send them our way!!! It is very important to understand that this is NOT a cure and only a band aid but I must admit it is going to be incredible to see him be as close to a normal little boy for a while! He will even be able to play normal baseball though he will get tired easily and need to have a substitution but this is awesome!!! My little red head will get to experience close to a normal childhood for a while! It is kind of bitter sweet as you get used to seeing your child close to a normal child and then that eventually fades away but we are going to try and revel in his soon to be new normal and put the reality on the back burner for a while. Don’t get me wrong, I will still be researching and trying to find the best treatment for Gabe but I must admit it is incredible to see the changes so quickly and more positive ones are to come. I will do my best to not become one of these parents that view this as a cure AS IT IS NOT A CURE! But it sure will be nice to see him doing things his brothers, cousins, friends, and classmates can do! Dr. K at Duke finally said that starting Gabe on steroids would not eliminate him from a trial but with all the other trials that are currently taking place; we will be analyzing Duke and their protocol like never before. As info, we have officially been designated a 501(c)(3) by the IRS so all donations will be tax deductible!! There will be more to come regarding this along with the launch of our web site so please stay tuned. Though we have many things going on (normal job, creating a foundation, building a web site, raising four kids with 2 in sports, coaching multiple teams, researching trials worldwide daily, being a nutrionist, etc.) this could not be accomplished without the help of you guys! Your rock and please know that you are appreciated more than you will know! Today we went and watched an Oak Mountain tournament game in Elkton, Al (don’t ask where this is as it is ridiculous to get to) and on the way there Gabe asked a question that I knew was coming but really did not want to hear. He asked “Daddy, why can’t I run fast like other boys?”…How in the world do you answer that???!!! I simply said “Little buddy, the medicine you are taking will make you run fast really soon!” He said “but daddy, I really want to run super fast like my brothers and Brooks (his best friend and next door neighbor).” WOW!!!!! He is starting to see the difference already and he is only 5. I had to hide the tears through my sunglasses and simply say “buddy, your day is coming…l PROMISE YOU!” Thanks for all you do! Gabe’s Dad
Wednesday, April 28, 2010 1:46 AM, CDT
SEE MORE SPAIN PARK PICTURES AT http://www.caringbridge.org/visit/gabegriffin
Folks – I wanted to update you on a piece of good news I received while on the way home form Coop’s baseball game tonight (which we won by the way). I know many of you have been following our journey and for the most part, it has been centered on Duke and an umbilical cord blood transplant at Duke. Though we keep pursuing Duke, those who know me realize that I am researching all avenues and will not rest until we have something that can potentially beat a currently unbeatable disease. During some older posts, you may recall the term “exon skipping”. This is where a molecule is given to the patient and it tells the brain to skip the deletions. We were excited and concerned about the recent news surrounding exon skipping and the fact that skipping multiple genes would potentially be lower on their radar then a single deletion. If you recall, Gabe’s deletion is 44-47 so he is missing 44, 45, 46 and 47 in the gene sequence. After my correspondence with the Australian doctor (THANK YOU TRACY SECKLER!!!!) we received the following good news…I will cut and paste so the below is the complete correspondence:
On 25/04/10 9:09 AM, "GRIFFIN, SCOTT T (ATTOPS)" <sg5736@att.com> wrote:
Steve- I hope this email finds you doing well! Tracy Seckler is a good friend of mine (see below) and our boys are battling the same disease, DMD. First let me start by saying THANK YOU so much for your research, efforts, and determination regarding Duchenne. We are closer now then we have ever been and I believe something positive is right around the corner.
Tracy suggested I reach out to you and see if you can tell me what exon or exons my son Gabe Griffin needs skipped and is there a sequence optimized for that yet? His deletion is 44-47 so my hope is you are already in the process for this deletion sequence. If not, what would it take to get a sequence started or created? My son will turn 5 on May 13, 2010 and though he is relatively young, as you can imagine, we are excited about the potential! I anxiously await your response. Again, thanks for your determination! It means more than you will ever know...
Steve's Response:
“HI Scott, we have developed a number of oligos to correct deletions in the hot-spot and we have a few working nicely for exon 43 (at least in cultured cells) and this is what would be needed for Gabe.
We have had oligos made and tested for this exon a few years ago and are continually updating and refining all of them. I have attached an old paper showing our oligo list. Type 1 are good, Type 2 are OK, type 3 are lousy and type 4 are “special cases”. You will see from the list that exon 43 AO was type 2. This has since been modified and is now a type 1 (i.e. good).
We are still tweaking and hoping to start some compassionate trials in Australia in the near future on the basis of being more effective than exon 51 oligo in current trials.
Cheers for now, Steve”
It is absolutely amazing to me that these brilliant doctors take the time to respond like this and genuinely care about beating this horrible disease. I am not saying Duke is no longer in the picture, but we will have to take in all the possibilities before making a decision for Gabe. It is a double edged sword in that we are starting to have multiple choices and will hopefully have the luxury of making a choice unlike many children before Gabe. Please let us never forget the children before Gabe that have paved the way to get us where we are currently. They are heroes and we never need to forget that!One other thing I wanted to mention…The Spain Park High School baseball team has selected Gabe for their first annual fundraiser in May (May 13th to be exact). The players will be playing the faculty and coaches and selling tickets. We went and met the players last Wednesday and needless to say, Gabe had an incredible impact on the players. I spoke to them briefly but the impact was made by my beautiful red head blue eye boy! We were leaving their field and two of the kids ran out after us and gave Gabe a Spain Park baseball cap (it actually fits him). The next day, Traci got a call from a mom who has two boys on the team and she said that Gabe made a tremendous impact on the team. After we left they got together and talked about what they could do for Gabe. When I talked to them, I mentioned that we needed two things, 1) Awareness and 2) Money. They were trying to figure out how to raise awareness for Gabe as the money piece would be covered by the game. They decided that instead of wearing their usual black tape or white tape on their wrists, they would wear RED tape for his hair color. It doesn’t stop there…they dedicated their playoff games vs. Pelham this last Friday to Gabe and wanted us to attend. We show up and the players were wearing the red tape on their wrists. But what was even more incredible was what was on the tape; each kid had written their own message to Gabe. Traci zoomed in with her camera and took some pictures which will be posted. The tape said things like H4G (Hope for Gabe), Win for Gabe, Gabe, Gabe Griffin, Hebrews 12 verse 1-2, etc. One of the kids who plays SS (I think) was on deck and saw Gabe at the fence. Keep in mind this is a playoff game. He was swinging his bat and saw Gabe and immediately turned around and said Hey Gabe Buddy…there was a net and a fence. He put his hand through the net and Gabe put his hand through the fence and pulled on his fingers. The kid said Gabe, this hit is for you! I know this sounds like something out of The Natural but the kid got up there and hit a freakin triple! Gabe probably did not realize what had just happened since he is only 4 but I can promise you one thing, Mommy and Daddy darn sure knew what had just happened and though they lost, that triple for us was like winning the State Championship! You ROCK Spain Park High School! Go Jaguars!!! Gabe’s Dad
Monday, March 29, 2010 11:37 PM, CDTIt has been a long time since my last post but only because we have not had any real news to post. We have been very busy with baseball practice, games, dance, swimming, and all the other things little kids do at this time of year. If you recall, we were waiting for Duke to meet face-to-face with the FDA and discuss the protocol that Duke wants to perform on children with metabolic disease first and then once approved, she would follow it up with a DMD addition. Well, they had the face-to-face and the meeting with the FDA went very well. Dr. K believes they resolved all of the issues with the original protocol. They have to send some changes back to them this week. Then Duke will resend the protocol through their IRB (review board). Once approved by the FDA and Duke’s IRB, they can amend to add kids with DMD. I am not sure of the timeframe associated with this but can only assume it will may be another 90 days at most. I can tell you, things have dragged out for so long, it is hard to stay motivated about the potential at Duke. Especially when you consider the advancement with other trials currently taking place…Exxon Skipping, Utrophin, Stem Cell Injections to major muscle groups, etc. This disease that Gabe has consumes Traci and me every single day. The pressure is immense to make the right decision. This isn’t like a baseball game where you have to make a very hard decision about a position. These are life or death decisions. What if we choose Duke and it doesn’t work and for the next 24 months my little 4 year old red head has to go through hell for something that may not work. What if we choose Costa Rica and the injections don’t work…the pain associated with getting 47 shots to every major muscle group three times (that is 141 shots to the major muscle groups over a period of time) and there is no guarantee that will work either. The problem is there is NO guarantee! It is not like you go to a doctor and he says, “you have strep, take this medicine and you will get better or this is going to be the course of treatment and this has been shown to work in the past.” We cannot find a single doctor that will guide us so this one rest solely on our shoulders. You want to talk about pressure??!! It is so difficult to take an otherwise normal little boy (he can feel, talk, run, love, play, cry, laugh, etc…) and voluntarily put him through some pretty awful things and HOPE it works! This decision rests solely on our shoulders and all we can do is try to be as educated as possible, as strong as possible, and maintain HOPE that we are being guided down the right path. With all this baseball stuff going on right now with Coop and Turner, Gabe is starting to ask questions and make comments like when can I play, when I grow up I want to pitch like Turner, I am going to play tackle football at Alabama…It is tough to hear that and keep a dry eye when I say “your right booger, you are going to do all that!” My HOPE is that we make the right decision and he is able to watch his brothers play all of these sports well into their late 20s and beyond if not play them himself.
Many of you continue to ask how you can help and what you can do…here are some things we have going on right now and if one of these areas interest you, please let us know. We are starting Gabe’s foundation, Hope for Gabe. We are waiting on our 501(c)(3) designation from the IRS. We have been approved at the state level and are waiting on the IRS in the next 60 days (we hope). If you are interested in being on our fundraising committee, please let us know. We have a Board of Directors and many folks have already offered to be on the fundraising committee but we believe you can never have too many. The next area that may interest some folks is our 2nd annual Derby for Duchenne Muscular Dystrophy on May 1st at the Matt Jones Art Gallery here in Birmingham. We are looking for auction items, corporate sponsors, or folks that just want to buy tickets. If you have any auction items or want to sponsor, please email Traci and me at scottandtraci@bellsouth.net. If interested in tickets, you can contact Traci or me or you can simply go to http://www.derbyforduchenne.com/ to buy tickets (click the Buy Tickets button). Third, as many of you know, the word HOPE means the world to us and Gabe! Traci has started selling her HOPE necklaces and WHAT A RESPONSE…WOW! THANK you to those who have already purchased the necklaces! If interested in a HOPE necklace for Easter, Mother’s Day, or any reason, let us know at the email above and we can ship one to you if needed. Lastly, if you have not already and you are on Facebook, please join Hope for Gabe, Inc on Facebook at: http://www.facebook.com/search/?q=hope+for+gabe&init=quick#!/group.php?gid=370030475519&ref=search&sid=100000897100430.603539213..1. This way you will be up to date with everything regarding our foundation. Traci does a great job updating the site and eventually it will be updated with fundraising events, educational items, updates on Gabe, etc.
It is time for me to wrap this up. I am sorry for being so long-winded but this is therapeutic to me in a strange way and it has been a while since I have written. I will end with this…“For I know the plans I have for you,” declares the Lord, “plans to prosper you and not to harm you, plans to give you hope and a future.”-Jeremiah 29:11. Today's pain may be preparing us for tomorrow. That's where the part about "a hope and a future" comes into play. Although God has put each of us in the place where we are to do His work today, He’s looking down the road to where we will be days, weeks, and even years from now. He wants us to be ready not just for today or tomorrow, but also for our last day here. I can promise you one thing, I will fight with everything I have in me to ensure that Gabe’s last day will be well after mine! Thanks for everything you all have done and continue to do…
Gabe’s Dad
Sunday, January 31, 2010 5:32 PM, CST PLEASE CONSIDER HELPING US FIGHT THE #1 GENETIC KILLER OF BOYS IN THE WORLD!!!
...and HOPE does not disappoint because the love of God has been poured out into our hearts through the Holy Spirit that has been given to us. (Romans 5:5)
When our beautiful son Gabe was diagnosed with Duchenne Muscular Dystrophy a year and a half ago, Traci’s sister gave her a beautiful necklace with the word “HOPE” on it to encourage her everyday. On that day and for a long time after, we did not have hope. We felt like the future for our son had been laid out in front of us. Everything that we had planned for our family and for Gabe was over. It’s a feeling we cannot describe. As time went on, we came to realize that we had a choice to make. We could take the path of despair or take the path of HOPE. While we will always have the visions of what life would have been like without DMD in our family, we cannot stop thinking about the possibilities of a treatment/cure and the positive impact that this disease will have on our family as well! We are getting stronger and are so blessed to have Gabe and so many supporters in our lives. Traci tells him all the time, you are my “angel from heaven,” “my hero,” and “my best friend”, and he’ll say, “but Mom I just want to be a kid, I don’t want to be a hero today!” We don’t blame him….that’s a lot to carry on your shoulders!! We know God has so many plans for Gabe….we just know it!! Traci and I look at the word HOPE differently now. It used to be about things so far in the future….now it’s about having a great day NOW!!! Along our journey, we have also come to realize that everyone has their own struggles. There will always be someone in a worse situation than you. You could stand in a line of people with problems or challenges, and there would always be somebody behind you that is struggling more. We try to remember not to compare our situation to someone else (although it can be hard), because we do not know their journey. Be kind to everyone everyday!
We wanted to write because we are currently in the process of receiving our 501c3 status for our new foundation in honor of Gabe….the Hope for Gabe Foundation (more details to come later). We wanted to take this opportunity to share with you our first fundraising idea…although it’s something small, it’s something very dear to our heart. We would like to sell Traci’s HOPE necklaces to anyone who needs inspiration, comfort, or HOPE right now in their lives (click on the above picture or go to the PHOTOs tab at the top and click on the necklace for a larger picture). The necklace could be for someone suffering from cancer, going through a divorce, challenges with a special needs child, unemployment, or just trying to find their purpose in life. We all know someone who is struggling…it may be us. We hope that this necklace might give them the encouragement they need to keep going or just bring a smile to their face. It’s not always easy to find the right words to say to someone in their time of need. Every time Traci puts her necklace on, she says she thinks about what HOPE means to her. We will fight this fight because we have HOPE. Please let us know if anyone would like one for themselves or as a gift…Traci is selling them for $29 or you can get multiples for $25 each. She has about $9 cost in each necklace, so approx. $20 per necklace will go into Gabe’s fund to help us find a cure for Duchenne Muscular Dystrophy. They are .925 sterling silver, come in 16” or 18” lengths, and she can ship them if you need her to. If you feel the need, please forward to any of your contacts, churches, Facebook contacts, etc. If anyone is interested in purchasing a necklace(s), you can email us at scottandtraci@bellsouth.net or call us at 205-527-4798. Thanks for the support!
One more thing, please mark your calendars and save the date for the Muscular Dystrophy Association’s second annual Derby for Duchenne (Kentucky Derby themed event) to be held on May 1, 2010 at the Matt Jones Art Gallery in Birmingham. It’s a blast!!! Just ask anyone who attended last year as we had a packed house and exceeded our goal significantly. Please plan on attending as your support is greatly needed and appreciated! We will send out more information as the time gets closer and I am sure we will come calling for help!!!
May God bless you always,
Gabe’s Dad and Mom
Scott and Traci
P.S. If you don’t have a cause near and dear to your heart, please consider helping us fight the #1 genetic killer of boys in the world. WE NEED TO RAISE AWARENESS AND MONEY!!! We need people to be on our fundraising committee for our foundation to come up with great fundraising ideas, contacts, auction items, sponsorships, etc. If you feel led to help, please contact Scott, (205-542-1069), Traci (205-527-4798) or Andrew Caldarello (205-685-5924).
P.S.S. We really want to thank Meredith Rowlen (here is where we plug Meredith Rowlen Photography!!) for taking the picture of the necklace for Gabe. Her family has been an inspiration to our family!!!!!!
Friday, January 15, 2010 8:30 PM, CST The updates and news continue to be quite frustrating. Dr. Kurtzburg contacted us again and yet again, unfortunately, after scheduling a face to face meeting in December, the FDA called right before the meeting and cancelled it. Now, they've requested more information before they will meet. We realize this is very difficult, but we have no recourse but to do what they direct us to do. Duke is working on the response to them now and we all HOPE the meeting will be soon.
On a side note, there is a contest out there right now where a foundation could win one million dollars to go towards research. PPMD (Parent Project Muscular Dystrophy) is one of the leading charities that is focused on ending Duchenne Muscular Dystrophy, which as you know, is unfortunately what my 4 year old little son Gabe has. We need everyone's vote for them to win $1 million dollars to help push their clinical trials forward...we are getting so close to a treatment!! I will post about this at a later date very soon. PLEASE, PLEASE, PLEASE take 1 minute to cast 1 vote for 1 million dollars. There is no cure, it is fatal, and he is worth it!! Everyone is worth one minute!! Let me know if you have a problem finding it by emailing me at scottandtraci@bellsouth.net …you can only vote once for each charity but you get 5 votes. Darius Goes West is another organization that is funding clinical trials for DMD along with Charley's Fund too. They could use your vote as well. Thank you from the bottom of our heart!!!!!!!!!!!!!!!!!!! Here is the link:
http://apps.facebook.com/chasecommunitygiving/charities/301212?src=wallpost&ref=mf
You can also help us out by posting something about the above message that is in bold blue font to your Facebook profile page if you have one. Make sure to include the link but remember you are limited to a certain amount of characters. Feel free to change it to make since on your page. You have no idea what this would mean to our family!
Gabe’s Dad
Tuesday, December 22, 2009 10:42 PM, CST
This update and news is quite frustrating. Dr. Kurtzburg contacted us and said they answered all of the questions from the FDA and re-submitted. The FDA came back with another laundry list of questions. Dr. K is frustrated as well but there is little we can do until they approve it or decline it. They appear to be doing this with all applications for stem cell therapy at this time as many of her colleagues are experiencing the same frustrations. Duke had a call scheduled with them yesterday, but the FDA cancelled it this past Friday afternoon and requested they have a face-to-face meeting with them instead. Duke is setting that up ASAP. So we are essentially stuck until this happens. After the meeting with the FDA, hopefully Duke will have the knowledge to give them what they want to allow us to proceed if we decide to go in that direction
The good news is that the child they transplanted almost 6 months ago with the same protocol that is in front of the FDA, remains engrafted with donor cells. Our hope is that after the face-to-face meeting, the FDA will give them the green light to move forward and then shortly after the approval, she can go back to the FDA to request the addition of DMD as one of the diseases to be treated. See previous posts for details.
I am asked often about a foundation for Gabe so here is an update on that topic. We are in the process of filing for Gabe’s 501(c)(3) status for his foundation through the IRS and have already secured the appropriate state approvals. The federal forms will be sent off tomorrow to the IRS. So many folks have helped me with the development of his foundation and have stepped up to help serve on the board, help with the filing/paperwork, or in some other capacity like developing the web site (soon to be underway). The name of the foundation is Hope for Gabe and the web address will be hopeforgabe.org (currently not operational but soon to be). When we met to talk about the goals of the foundation the first thing that came to mind is to give HOPE to all the children that have this horrible disease by raising awareness, money for research, and a support system to help others cope with this horrible disease. I want Gabe’s legacy to be one that shows others that through persistence, determination, and not giving up, you can beat anything…even things that are currently unbeatable! We want this foundation to be able to make a real difference and contribute to institutions that we believe are close to a cure or treatment for DMD. I truly believe that this foundation WILL make a difference simply because the people that are involved and surround us with offers to help are all so determined to make sure he lives a long long life.
We are so fortunate to be surrounded by so many folks that care and are all willing to help or support us in so many different ways. A special thanks goes out to Ed Reisinger who helped us with the paperwork for the foundation at the state level and federal level. A special thanks as well goes out to Andrew Caldarello, Mike Wilburn, and Dr. Kelli Blessey for wanting to sit as board members on the foundation. A special thanks goes out to Patrick Denney and Van Gladney for getting me in touch with Congressman Spencer Bachus who supported the MD Care Act and has supported my charge to get MD children supported with PT/OT services through the county school system. Another special thanks goes out to Andie Mango and Lissy Hutcheson for their help yesterday around the house and finally, thanks to Brian Copenhaver who has agreed to help us with the foundation web site.
I am sure I may have left folks out of this posting…like people who help us carpool kids to practice while Gabe has therapy at Lakeshore Foundation or other neighbors that watch our kids on short notice because we are in transit from different Gabe appointments and can’t get the kids off the bus. Regardless of whether you are mentioned here or not, you know who you are and hopefully you know how much your support means to us!
I will wrap this up by saying thanks for everyone’s thoughts, prayers, and support! Because of you, we have the strength to do the things we are doing and through our efforts, HOPEfully we will keep Gabe walking longer, which makes him live longer, and gives more time for a cure to ultimately beat this disease! My Christmas wish is one of HOPE and I HOPE we get the news we are wanting to hear from the FDA as a New Year’s gift! I HOPE you and yours have a very safe and happy Holiday Season! Gabe’s Dad
Saturday, November 28, 2009 8:41 PM, CST
I apologize to everyone for my delay in posting an update. I guess time got away from me. I will be quick as there is not a whole bunch of news to report. But if you believe I will be quick, you must have logged on to the wrong web site. We found out on November 11 that Duke was fully expecting approval from the FDA but instead, got a laundry list of questions about the protocol that she is requesting their approval for and what she ultimately wants to perform on Gabe (see the previous post for details). Dr. K said this is quite common and they will answer the questions as quickly and as detailed as they possibly can and at that point, the FDA will have another 30 days to either ask more questions or simply do nothing which signifies approval. I will keep you posted. I realize that the common theme in my family’s life now is one of HOPE and you will find that this is a common word used throughout my posts. As Thanksgiving has just passed and though my family and I struggle sometimes to make sense of the cards we have been dealt, we still fully believe that as long as we have HOPE, we have a chance to beat this horrible terminal disease. I want everyone who reads this post to understand that me, my family, and especially Gabe have many things to be thankful for at Thanksgiving. Specifically the incredible, amazing, and persistent doctors that circle the globe who will never give up until they beat this disease. And it seems that when you get a piece of bad news (like the FDA asking more questions instead of approving the protocol), you get a piece of good news. As many of you know from either talking to me or reading these posts, my son and many little boys like him that have this disease, do not produce Dystrophin which essentially rebuilds his muscles and stops them from dying. Without Dystrophin, all of his muscles will die (like his heart) and ultimately will cause his death by the age of 15-20 years old. But because of incredible doctors across the globe, we have HOPE. We have HOPE today that was not available to the little boys that lost their battle to this disease prior to Gabe. The research I do at night has made me realize that information typically does not just show up in your email inbox or on your VMS. You have to go looking for it! It does not simply come to you! As a result, I found an article on an amazing case dated October 20, 2009 regarding a DMD patient and a doctor that was willing to think “out of the box”. Ironically enough, it may be because the patient had no HOPE left and they were willing to try anything to save their child’s life, even at his age. A doctor recently used adult and umbilical cord blood stem cells on a 23 year old man who has Duchenne Muscular Dystrophy, like Gabe, and a year after his procedure, he is still producing NORMALlevels of Dystrophin and getting better, stronger, and healthier every day!!!! NORMAL LEVELS OF DYSTROPHIN! Not a little bit, smidgen, or a tad…but NORMAL! All Gabe needs to produce is roughly 5-10% the normal level of Dystrophin (depending on what doctor you ask) and this 23 year old man is now producing NORMAL levels of Dystrophin. Please do not read this as they have cured DMD, but read this as doctors who will not give up and have done something that has never been done to date, is not legal in the U.S. yet, but is somewhat similar to what Dr. Kurtzberg is wanting to do to Gabe. Dr. K was extremely excited about this doctor’s findings and will be contacting him to investigate their protocol and compare it to the protocol she is wanting to do on Gabe as there are some differences and a ton of questions yet to be answered about this patient/procedure. Sometimes it takes someone to think out of the box and not worry about what some medical blog site may say or what their peers may think or say. I want each of you to click on these two links in order below. The first one is the actual journal write up and the second is a news story that was done on this case.
First Link - http://www.distrofiamuscular.net/news.htm
Second Link - http://www.kake.com/home/headlines/69538137.html
My HOPE is that after each of you have seen the above links, you too will realize that right now, the best thing Gabe has going for him is HOPE. I will close with two definitions that may not be “Webster’s” but are my definitions:
1) HERO – One who is endowed with great strength and courage!
2) HOPE – Believing something so GOOD can come from something so BAD!!
You are my hero Gabe and through God, we have HOPE!
Love,
Your Daddy
Wednesday, September 30, 2009 9:41 PM, CDT
Well, this has been a day we have been waiting for for over 60 days and Dr. K did not disappoint! We were anxious to hear whether or not the non-myeobalative procedure (low dose chemo) worked on the child she recently treated. We got on the phone and after exchanging some plesantries, she said I will not keep you in supsense any more but it appears to have worked!!!!!!!!!!!!!! The child had 98% engraftment at day 60 and of the Lymph cells, on day 30 they were at 33% and day 60 were at 57%. This is huge!!! The child did not have a muscle disease but had a metabolic disease. The incredible part is the jury has been out on these non-myeobalative procedures and Dr K. appears to have had success. She stated the next step was for the FDA to review her protocol and approve or deny. They have already come back twice with questions about the protocol in which Duke has responded. Duke is now waiting on the FDA to rule. She did tell us that the protocol she submitted to the FDA did not include Muscular Dystrophy but this was done on purpose. She said if you have multiple disorders associated with a protocol, it makes it very difficult to get approved and the red tape drags out. She said by only submitting metabolic diseases as being treated by this new protocol, the review period is quicker. Dr. K. also stated that once they approve this protocol (probably late October or early November) she will submit an additional disorder to be treated by this protocol about two weeks later (Muscular Dystrophy) and the process is much quicker. Once they submit Muscular Dystrophy, the FDA has 30 days to decide and if Duke hears nothing after day 30, they can start enrollement for MD children (Gabe). However, she did warn that many times the FDA will wait until day 30 and place a hold on the new disorder. The FDA then has another 30 days to come back with questions in which Duke will answer quickly. The FDA then has ANOTHER 30 days to either accept, deny, or ask more questions. If they ask more questions, the 30 day process starts all over. If they deny, we will get other folks involved. If they do not reply at all, this signifies acceptance and she can start enrolling. To make this simpler, she believes best case, she would be able to enroll Gabe by the first of December and worse case early February but she believes it will be approved because it is a lower dose of chemo procedure. Now for the most incredible part of all, at least for me. If you recall, Dr. K. was originally going to treat Gabe with a high dose chemo wiping out his system totally and he would have zero white blood cells for some time. Ironically, she then decided to switch gears about August timeframe and move to this non-myeobalative (low dose chemo) protocol. The interesting thing here is that this new protocol involves a round of raditiation right before the transplant (see previous posts) which the previous protocol did not. Today I was provided a link for an article out of London dated August 4, 2009 (about the time Dr. K changed her direction) that outlines a DMD study that used raditiation successfully in mice. Here is the link: http://www.muscular-dystrophy.org/research/news/1235_promising_new_evidence_
Please read the above link as this is a remarkable article but here is a quote:
“Prior to the transplant the mice were given a dose of radiation to deplete the number of existing muscle stem cells. This ensured that any muscle regeneration was exclusively due to the transplanted muscle stem cells. The research showed that the transplanted muscle stem cells were able to regenerate the older dystrophic muscle just as well as in the young mdx muscle…Interestingly, the researchers also noticed that the radiation treatment seemed to enhance the ability of the transplanted stem cells to regenerate muscle. In fact, the transplant was only successful in the older mice if they had radiation treatment...This study provides promising evidence that stem cell therapy might be effective in older individuals affected by Duchenne muscular dystrophy with damaged muscles as well as younger individuals with healthier muscles."
This is huge for all DMD paitients young and old (old being 10 to late teens). I hope each of you can see the amazing connection between the article and Dr. Kurtzberg’s change in direction. She stated today that she would much rather perform this new procedure on Gabe as it is much much safer and not near as risky as the original high dose chemo protocol. It has never been more evident to me than today that Dr. K. considers and reviews all the ongoing and completed studies that are out there to make the best decision for her paitients. This is truly what we need. I will post the next time I have any major news but right now we are just waiting for the FDA approval to come through before we make a final decision. Thanks for all the thoughts, prayers, and most importantly, thank the Lord we have HOPE! Gabe’s Dad
Tuesday, September 1, 2009 8:02 PM, CDT
I know that folks are waiting for an update and unfortunately we have not had a call with Duke yet. We received a call today from Duke and a call has been scheduled for September 30. I was concerned that the reason they put it out another 30 days was because they did not see the type of results they were hoping for but after speaking with Duke, that is the first day Dr. K is available since she has been out of the country for so long. We will post something soon as I plan on sending an email to Dr. K to ask how things with the other child went in regards to the new protocol. Hopefully she will be open and not make us wait until 09/30. On a side note, my dad passed away this weekend after a long battle with Alzheimer’s and was buried today. He was 81 and it was time. Thanks to all the thoughts and prayers and a special thanks goes to those who made the journey to Montgomery for the visitation. I now feel even stronger about Gabe’s options as we now have an ex-Major Air Force pilot watching over Gabe to ensure only the best things occur with Gabe! I will miss my dad more than anything but I am so glad he is no longer in any pain, has found a brand new body, and all of his memories have been restored. Though my children have a brand new angel to watch over them, I am so so ready for some good news!! Gabe’s Dad.
Sunday, August 16, 2009 8:11 PM, CDT I wanted to add a quick update as we keep being asked if we know anything based on my last post. I know it has been a while, but it means the world that everyone keeps asking for an update since there has not been an update lately. As a result, I wanted to get an update out so everyone knows a status. As info, Dr. Kurtzberg from Duke is out of the country until August 25th. We hope to have a call with her soon after that date to understand how the other child is doing and if the new procedure appears to have worked or not on the child (see my last post for more details). The 30 day wait period has come and gone for this child so we are as anxious as anyone to hear the update on this child. To reiterate from my previous post, this is a low dose chemo treatment versus the original high dose procedure she originally was looking to perform on Gabe. Once we have had our call with Dr. K, I will update Gabe’s site. Please keep praying that this new process worked on this child. Even if it did work, there is still potential it may not work on Gabe’s DMD but at the very least, the mortality rate due to chemo goes from 20% to less than 2%. Thanks for all the thoughts and the hands that have been laid on my family in prayer. The support from everyone and Dr. K’s research gives us more HOPE than you can imagine. Gabe’s Dad
Monday, July 13, 2009 10:21 PM, CDT We have been waiting to talk to Dr. Kurtzberg on this call for some time and needless to say, she did not fail to deliver! She has been looking to transplant a child with a non-myeloablative procedure, which is little to no Chemo, and she has now done that. This patient had a leukodystrophy disease and the donor stem cells should be engrafted within the next 30 days. She said she is 80% sure the cells will engraft in the child’s blood stream and ultimately end up in the child’s brain where the disease is based on her research. Here are the details of our call.
Previously, she was considering doing a high dose of chemo (if you remember, 13 days of chemo to wipe out all of his cells and immune system) but this protocol is extremely aggressive and serious complications could occur. This procedure also carries a 15 - 20% mortality rate. This new procedure she has used on this child is a reduced intensity protocol which as mentioned before, is less chemo and less dangerous. Still dangerous, just less dangerous by a significant amount. This protocol is much easier on the child. However, the prep time for the procedure is longer. The prep time for this procedure is 2 months yet the prep time for the high dose Chemo procedure is only 2 weeks. The great unbelievable news is that the child she has just treated in this fashion has spent no extended time in the hospital. The regimen is as follows:
Gabe would be given a 4 day course of Campath 2 months out – then go home
Then he would be given another 4 day course of Campath 5 weeks out – then go home
He would be given a small does of chemo 5 days out – then go home
1 dose of radiation (which was not part of the original process) 1 day before the transplant
Receive the transplant – then go home
This is such incredible news as the original way, we would have to live at Duke for 6-9 months and this way, the child they have tried this on has not spent ANY prolonged time at Duke. They have done this on other children (some with Sickle Cell) with tremendous success. The great news is this is considered a “silent conversion” in which his bone marrow cells are not killed off but keep protecting him from infection as the new cells “grow, engraft, and eventually take over for his cells”. The process of the new cells taking over for Gabe’s cells is Chimerism. The trial she is developing will be for non-malignant diseases with a specific focus on genetic diseases. To her knowledge, there is only one other facility including genetic diseases and that is Kentucky where they are doing this for MS and adult organ transplants. Duke is the only facility doing this in children with genetic disorders. She stated the key is to get the cells to engraft in the blood stream first. The cells are processed differently but are more likely to engraft. In earlier posts, I spoke of the use of ALDHbright cells, but with this process, she will utilize what is called a facilitator cell along with some ALDHbirght cells. In 30 days, she will know whether or not this has worked on this child. Within 30 days, the cells should engraft and the blood converts to the donor’s. Since this child’s issues are in the brain, they will do tests to ensure that the cells engrafted in the child’s brain. She brought up something that made so much sense to me…she stated that by utilizing the high levels of chemo, all parts of the child became sick and as a result, the new cells may have less of a chance to engraft. The high chemo process still works, but there are more issues with it. With this new process, there are also no sterility issues or growth issues since you are not wiping out the child’s white blood cell system. With the other process we were discussing with Dr. K, there was a 20% mortality rate associated with the process (mostly from the 13 days of Chemo) and with this new process, the risk related to Chemo goes to less than 2%.
As info, Traci and the kids have been at her parent’s house this past week and will be coming back tomorrow. As a result, we took the calls from two different places. The incredible thing is though I was not there with her; I could see her smiling through the phone as the call went on and on. The chemo part of this has always been the major issue with her and though there is still a risk of Graft versus Host Disease, the major risk of the Chemo treatment has always been her concern, and rightfully so! But this call was different, she had a little pep in her words as the call went along and when it was over, I could tell she was smiling so much. Don’t get me wrong, this sucks that we have to go through this, but you must look for every little positive sign as you go through the process and when you consider everything that has happened to date, today we got some positive news! This was well overdue! Gabe’s Dad!
Monday, June 22, 2009 9:58 PM, CDT
As I keep researching, fortunately, so does Duke. I sent an email to Duke asking where Dr. K is in her process with the FDA and are we still looking at a potential July time frame in the event Traci and I decide to move forward? Here is the response from Duke:
“Dr. Kurtzberg is still out of town, but she did want me to relay that she is waiting to see the results of the first transplant with reduced intensity conditioning, before finishing the DMD study proposal.
We have set up a phone conference for you with Dr. Kurtzberg, for Monday, July 13th at 4:00pm EST. This way, Dr. Kurtzberg will be able to answer the many clinical & technical questions you have”.
The important phrase here is first transplant with reduced intensity conditioning. This means she has tried what she wants to do with Gabe on another child using a non-myeloablative procedure which means little to less to no chemo. This is huge as this COULD mean Gabe would not have to undergo aggressive chemo if this trial is a success and if we decide to do this. It also means that his immune system would not be suppressed for as long as the original plan. The biggest issue has always been immuosupression and the threat of Graft Versus Host Disease as a result. This could help address those issues. You can read about the trial at: http://clinicaltrials.gov/ct2/show/NCT00744692. It is evident to us that Dr. K is trying everything in her arsenal to ensure the children she treats goes through the least amount of pain and risk when she treats them. This is a good thing! It will be interesting to hear on July 13 how she believes this new process could potentially help Gabe’s disease or if that is even in the cards for him??? We anxiously await that call! Gabe’s Dad
Tuesday, June 16, 2009 10:05 PM, CDT What a week!!! We spent the week at Disney World. We got back this past Monday evening. There are no words of gratitude that can truly express how grateful we are to one of Traci’s childhood friends from Enterprise for helping us have our magic moment with Gabe. We will NEVER forget it!! We got to eat dinner with him, his wife, and beautiful daughter and got to catch up on the last 20 years! It was also a special trip in which Grammy was able to go as well as my sister. I know they will have memories that will last a lifetime. All the kids were so thrilled they came along but especially Gabe. He loves his Grammy and Aunt Steph. I know Gabe did not have any idea as to what he was in store for at Disney World, but he does now! He still keeps talking about the Power Rangers he saw as they signed his autograph book. He also was amazed by the Star Wars characters that were EVERYWHERE! It was a Star Wars special weekend at Hollywood Studios…what a time to go. They were all there walking around, signing autographs, walking in parades, etc. His favorite was Darth Vader (or Dar Bader as Gabe would say it). I must share a story with you…all Gabe had been talking about was Thunder Mountain as he saw it on a Disney video. He was so excited when we were walking up to the ride and was saying “I go faster”. We knew it would be close height wise but thought that since we had a special needs pass and this was a magic moment trip, the person would be understanding. As we walked up, she said he needed to be measured. I set him down with a hat on and she asked that we take the hat off. His hair was over the bar so I thought she was going to let him go but instead, she pressed his hair down and he was about ¼ inch too short. I thought for sure she would let him go but she said no. He started balling! We explained the situation and Traci was crying now and she was pretty direct in her answer by saying “he cannot ride it as it is a safety issue”. Traci and Gabe were devastated. My sister, the other children and I went ahead and rode the ride, but I was pretty fuming. When I got off the ride and saw Gabe crying so hard he was doing the no breathing thing…parents know what I mean, I said this is not going to happen this way. I picked him up, walked back up to the line, waited for her to be distracted and walked right up the ramp. We rode the ride and Gabe screamed “I go faster daddy, I go faster” the whole ride. It made my trip!!! We walked off the ride and he was screaming to Mommy, I did it Mommy! I am big and I go faster! Mommy was now crying but from tears of joy. We learned from that experience. We went to CVS and got Dr. Scholl’s foot pad inserts and I cut them to fit his shoes. We took them with us every day from that point on and when we got to a ride that was 40 inches, we would put them in upside down to give him even more of a lift. He was measured at every single 40 inch ride and I am happy to say, he passed every time!!! I had to carry him the whole time while the pads were in as he could not walk but he passed every time and rode everything…rides like Soaring, Test Track, Star Tours, and even rides at Sea World. It was awesome and worth it! I would do it again…
As I continue to write, we keep researching and even though we realize there may not be a huge sign out there directing us, it is amazing to us how things continue to pop up in the strangest places. A perfect example occurred on our trip to Disney. The last day (Sunday) we decided to spend the day at the resort playing in the pool, playing putt putt, video games, ping pong, etc. We are all in the pool and I am playing in the pool with Coop and Turner while Addie and Gabe are up with Mommy and Aunt Steph playing in the shallow end. I noticed that Traci has been talking to a certain lady for about an hour. I decided it was time to get out for a while so I dry off and go over to where Traci and Aunt Steph are talking to this lady. I walk up and the first thing out of Traci’s mouth is, “you are not going to believe this!” Of course I can’t imagine what it could be as they have been talking for a long time. It turns out that out of all the people visiting Disney, out of all the resorts in Orlando, out of all the many buildings at our resort, out of all the different weeks people could choose to go to Disney…the woman sitting next to Traci was in a coma/paralyzed for 10 years from an accident. They decided to do an unrelated donor stem cell transplant on her and she is now normal with the exception that her left leg drags a little. Unbelievable!!!!! She was in a coma and did nothing for 10 years until the stem cell transplant and here she was sitting next to Traci at our resort telling her amazing story. I wish I had bet on those odds in Vegas…think about it for a second. Out of all the people in the world that went to Disney that week, this woman stayed at our resort and sat right next to Traci…admit it…that is absolutely remarkable! She had some incredible insight and it was an incredible story! She is writing a book and we exchanged information so we can keep in touch going forward. I truly believe this entire trip was a gift from God…from Traci’s friend’s precious gift to us, to Grammy and Aunt Steph being able to share in this special trip for Gabe, to the woman that was in a coma for 10 years prior to a stem cell transplant sitting right next to Traci at the pool…what a week!!!! Gabe’s Dad
Sunday, June 7, 2009 11:17 AM, CDT
I wanted to post a quick note with a few links to show the power of stem cells. Please go to this link and watch the news cast. There are a group of doctors in Italy that have been working in the lab on this for some time using golden retrievers. I have been corresponding with them via email for about a year now and they hope to have a human clinical trial in the next year based on my discussion with them this week. Though this is different then what Dr. Kurtzberg at Duke is looking to do to Gabe, this video truly shows the power of stem cells and what can be accomplished through funding, persistence, and brilliant doctors that truly care! They utilize the DMD patients own stem cells by altering them in the lab which avoids rejection of the cells. Click on this different link to see another video that demonstates the power of stem cells. Take a look and I am sure you will be as hopeful as I am. Gabe’s Dad
Monday, June 1, 2009 11:28 PM, CDT
I know it has been a long time since my last post, but during this time is when Traci and I have been thinking about everything and weighing all of our options. I knew this would be a difficult process and it would be extremely difficult to make a firm decision about the transplant but it seems as if every time we get to a place where we are ready to make a decision we talk to someone else or something happens that sways us the other way. We still have not made a decision and it’s mentally exhausting. We actually went and looked at the elementary and kindergarten schools in Enterprise, AL in the event we move forward with the process. This is where Grammy and Papa live and where Turner, Coop, and Addie would live and go to school if we decide to do the transplant. We would be away from them for about 5 months...This truly sucks!!!
We had a great discussion (based on where I am in the process) with the mom who’s son had a terminal disease called ALD (Adrenoleukodystrophy). You may recall from a previous post that in my opinion, this disease seems conceptually similar to DMD though it is a nerve disorder and DMD is a muscle disorder. The similarities are that ALD affects 1 in every 18,000 boys/DMD affects 1 in every 3500 boys; ALD symptoms present between 4 and 10/DMD presents between 3 and 6; in both...boys develop normally until the onset of symptoms; ALD is caused by a genetic mutation and a lack of a transporter protein/DMD is caused by a genetic mutation and a lack of a structural protein; There is an adult onset form of the disease that is milder/DMD has a milder form called Becker's; ALD is a breakdown of the membrane that surrounds the nerves and as a result the nerves cannot signal the brain appropriately causing neurological deficits/DMD is a breakdown of the membrane that surrounds the muscles and as a result the muscles cannot re-build, both are highly hereditary passed down by the Mom and I could go on....the conversation with the ALD child’s mom was so informative. She and her sister both had children that had ALD and they decided to go through the transplant process at Duke together. One child was 2 and the other was 8 years old. This is significantly important because of the age difference. As Dr. K at Duke told us earlier, the age matters when doing a transplant and if under 5 the better, the next cutoff is 8 years old and at this age, it is more risky. Recently, the 2 year old child, now 9 (I think) has been declared cured of ALD, the 8 year old child now 15 (I think) is also cured of ALD, but he had serious Graft Versus Host Disease that affected his nervous system. As a result, the child is cured of ALD, but now is confined to a wheel chair for life. Though this is such a horrible outcome and our thoughts and prayers go out to them, it appears as if he will have a normal life expectancy though in a wheel chair. This is such a win when you consider ALD children have lost their battle by the age of 12 typically. After our discussion, Traci and I were moving a step closer to our decision. It is just so difficult to pull the trigger on a decision when we know if we do nothing and though we know the outcome, we will still have Gabe with us for another 15-16 years and we can make memories. We understand the last several years will be awful, but we still have memories. On the other hand, Dr. K believes this will help him to some degree and there is the potential of the possible cure. There is a first for everything, ALD, Cerebral Palsy, CGD, Leukemia, Sickle Cell, etc. There was always the first one.
Then today, we talked with one of Gabe’s doctors at UAB Children’s Hospital here in Birmingham and it was an informative discussion. This doctor was not quite as positive as the ALD mom and others we have talked to that have been through the process but his candidness was most welcomed (based on where Traci is in the process). He simply stated that we need to be as educated as possible when we make the decision and once it is made, there is no looking back. Though we have heard this before, it helped tremendously to hear it from one of Gabe’s doctors here in Birmingham. He actually made a great suggestion that we had not thought of and that was to contact another world renowned umbilical cord blood transplant center (like Seattle or Minnesota) and talk to them about the statistics for an unrelated cord blood transplant and ask them about this type of transplant for a DMD child. It appeared to me in his voice and comments that he was not in favor of us deciding to do this at Duke though he never stated that as a matter of fact. He did explain to us that he was the doctor for a child that had a 6/6 HLA SIBLING matched stem cell donor (complications should me minimal) and the child lost her life due to a severe Graft Versus Host Disease in the child’s lungs. Though this was difficult to hear, it was true and we needed to hear it. This in itself was very difficult to hear and accept but we appreciate his candidness more then he will probably know. We must know the good and the bad to try and make a fully educated decision. He did say there are so many things they are doing with cord blood, that many diseases once left untreated, are now being treated. He was just unsure about the potential of treating DMD with cord blood stem cells. He could not however answer the question as to why a cord blood transplant would cure a child that has a genetic mutation lacking a transporter protein (ALD) but it may not cure a child that has a genetic mutation lacking a structural protein (like Gabe - DMD). To his defense, he was not a Neurologist. The mystery continues…Once we were done with our discussion, he stated that no matter what we decide that Gabe’s doctors at UAB will always be there to support him. We now have a call into another one of Gabe’s Neurologist here at UAB to see if she can answer the question mentioned above. They are truly a great facility and we are fortunate to have such a great hospital in Birmingham! We appreciate all of your support, prayers, opinions, and references! We are truly blessed to have the support circle we have and cannot make it through this without you! We pray every night that God will give us the strength and knowledge to make the right decision as He is all knowing and will guide us down the right path. Thanks for everything as we continue to try and make the right decision! Gabe’s Dad
Sunday, May 10, 2009 9:15 PM, CDT I know it has been a while since my last post, but we have been so busy with the Derby for Duchenne, baseball games and 3 of my children’s birthday parties. Crazy!!! The Derby for Duchenne was a huge success and I plan on posting pictures at a later date. As info, we raised over $41,000 with more coming in every day. Thanks to everyone who attended and contributed in some way. You have no idea how much your prayers, generosity, auction items, or your time, meant to us! Words can not describe how Traci and I felt the night of the event as we watched all of the hard work come together successfully, and were able to share it with a lot of our closest friends and relatives! For those who were unable to attend, we had everything from Saban and Chisik signed items, beautiful beach houses at Carillon Beach, paintings from Bham artists, a New Orleans Saints getaway complete with hotel, team signed football, and tickets, to an official NASCAR hood from the #88 National Guard car signed by Dale Earnhardt Jr., Mark Martin, and their entire team. Needless to say, it was a huge success and everyone who contributed to the cause should be very proud! More to come about the Derby…
Back to the transplant for now…we spoke to the parents of the CGD child. The child now has a name and is no longer called the CGD/DMD child in our household, he is called Nate. We spoke to his dad on Friday May 1st. The call came in and when I looked at caller ID, I came so close to not answering it as I did not recognize the number. Something told me to answer the call so I did. When I heard the voice on the other end and after his introduction, I thought I was going to trip and fall as I was running around to find a pen, paper, and Traci. Traci was on the phone with me the whole time and we tried to take notes. Try to picture yourself waiting for the call from Publishers Clearing House and finally getting the call…that is how we felt! Traci and I looked at each other like this was the pot of gold at the end of the rainbow, the golden key! Nate’s dad was so awesome to talk to as he has been there, done that…and he would tell us things in anticipation of our questions as he knew we would ask certain questions since they were and are in the same boat as us. He told us that Nate is climbing stairs by alternating feet (Gabe cannot) but he does have to use his arms to pull himself forward. He also told us that though he can jump, run, hop, ride a bike, and climb stairs, he does most of these tasks awkwardly as compared to his sister. The incredible news is that he was not doing any of this prior to the transplant and is now able to do these things and IS PROGRESSING EVERY SINGLE DAY WITH NO REGRESSION NOTICED BY THE PARENTS OR THE DOCTORS! As a comparison, Gabe cannot pedal a bike, alternate feet when climbing stairs, and runs awkwardly like I assume Nate runs. I have said this before, but it is amazing to me that Nate’s dad stated none of the doctors have him on any medicine for DMD right now and he is about to be 5 years old. Keep in mind that he sees doctors at Harvard, at Duke, in Boston, and in Buffalo and none of them have him on medication. There were many fascinating things that we heard from Nate’s dad but there were three things he said that stood out to me…1) When they tested Nate’s blood before the transplant, it had the Dystrophin abnormality in the blood but post transplant the Dystrophin abnormality was not present and Nate’s behavior has been much better…”if the Dystorphin abnormality is not in the blood, that has got to be something positive.” 2) “If Dr. Kurtzberg came to us tomorrow and said we had to do yet another transplant, we would do it.” 3) “Dr. K is the most caring doctor we have met, and believe me, I have been insulted by the most intelligent doctors in the world, but the fact she is willing to do this on Gabe means she truly believes this will work on Gabe.”
This was a lot to take in as you can imagine but there was more positives then negatives, but there were some negative. He said while they were there on the transplant floor, they saw 2 children pass which weighed really heavy on their hearts. Both children had a severely advanced form of Cancer, but imagine being there with your child and having to witness the deaths of two young children…That is the part that scares Traci and I. There is a 15-20% chance that Gabe may have serious issues from the DONOR stem cell transplant that could include death. We have talked again about having another child in hopes the sibling child is at least a 4/6 match of Gabe as the risk drops SIGNIFICANTLY! There are processes you can do (PGD, PGS, etc.) that can increase the match potential and we have talked to families who have had a baby to save a child…Think about it for a second, is there anything you wouldn’t do to save your child’s life??? I think we all know the answer. We plan to ask Dr. K about PGD/PGS again and if she thinks we should consider it. She already told us no as she felt it would prolong Gabe’s transplant and she believes the younger the better. So I believe I know her answer but we are now at the point where we have asked all the questions, read all the web sites, researched all of the countries, talked to all the doctors, talked to many many parents, have prayed all the prayers (and continue to pray) but there comes a time to make a decision and that is where we are right now. Understand, this impacts so many things…my son was going to be nominated for All Stars in baseball----we declined, both my sons wanted to do a football and golf camp this summer----not signed up, usually my kids are signed up for YMCA camps and vacation bible schools by now----not this summer! Football in the fall----we may not be here as we will have to be a Duke for 5 months if we choose to do this…Granted these are all trivial things that my other kids will get over, but it isn’t fair and it truly sucks, especially as much as I enjoying coaching my children’s teams. If we decide to do it, I will miss all of these things but make no mistake about it…if there is a potential to help/fix my Gabe, all of this will be worth it. Gabe’s Dad
Tuesday, April 21, 2009 9:05 AM, CDT
I typed this up last night, but did not get to post it until this morning. We got some GREAT news yesterday! The results came back for Traci’s genetic test and she is NOT a carrier!!!! Praise the Lord!!! It is about time we get some positive news. This means that my other boy children, Turner (7) and Cooper (5) do not have this horrible disease. It also means that Addison (Gabe’s twin sister) is not a carrier, most likely!!! We need to talk to a geneticist about Addie since she was Gabe’s twin but all signs show that she is most likely not a carrier. They do recommend she get tested as a precaution when she gets older or starts thinking about having children which is a long long way off. Traci called me at work and when I answered she said “baby I am scared!” and she had that sound in her voice. You know the sound…when you can tell someone has been crying. I asked her what was wrong and she said her genetic test had come back. She thought it was a bill from Cincinnati’s Children’s Hospital and when she started to open it, she saw the words Emory Genetics Laboratory at the top and knew that it was her test results so she stopped and called me. I asked her if she wanted me to come home and be with her when she opened it and she thought for a minute and said she was going to open it. She then stopped for a minute and then said o.k. I am going to open it. She then paused for a minute and said, alright here I go. I have never heard such elation in someone’s voice as I did hers at the moment when she read “RESULTS: NO GENETIC MUTATION DETECTED”! She screamed out in joy! It was so awesome. The test went on to say that “this data suggest that a NEW Dystrophin mutation in this family occurred in this individual’s affected son…” This means it started with Gabe and will stop with Gabe! I know many of you probably sensed it but Traci has blamed herself in some way for what has happened to Gabe. I know it sounds crazy, but she did and she has been carrying this heavy burden with her the whole time. Anyway, hopefully this will put her mind at ease and this will give her the peace she has been looking for this whole time. I know it does not change Gabe’s diagnosis, but at least we know our other children are safe and Traci does not have to worry about all of the other complications that come with being a female carrier of the horrible disease. I realize our journey has just begun and it is going to be a long one but when you are reaching for something that seems so far away (a treatment/cure for Gabe) it is the little successes along the way that keep you going. And believe me; this one was not little by any means. This was huge for our entire family. So many of you have been there supporting us along the way and specifically supporting Traci during this time of uncertainty. We could have never gotten to this point without you. Now that this hurdle has been cleared, it is time get ready to clear one more BIG hurdle and we can’t do that without all of the love and support from our friends and family. I say to myself all day long “if we can just fix Gabe, nothing else will matter!” I truly believe in my gut that we have a great shot of doing this and through the support of everyone, we have HOPE. I will be sending an email to Dr. Kurtzberg at Duke and ask her to follow-up with the parents of the CGD child so we can talk to them. That is the last piece of the puzzle and then we will have all the information we need to make a decision. We are very anxious to speak to them! Thank you so much for all of your support and prayers!
Special thanks go out to my sister-in-law, Jo, for the shirt she sent to Traci! It simply says HOPE with the verse from Jeremiah 29:11 "I know the plans I have for you"…
Gabe’s Dad
Tuesday, April 14, 2009 11:10 PM, CDT
Today, our 5 year old son Cooper went to the doctor for a routine check-up regarding the tubes in his ears. Tubes in his ears now….not anything major, just tubes. It appears there is some tissue growing around the tubes so they will not come out on their own and will need to be removed under anesthesia. Today it became more evident then ever how far reaching this Duchenne Muscular Dystrophy thing is! When the nurse practitioner came into the room to ask the usual rounds of questions, you know, is he allergic to any medicine, are there any major issues, is he on any medication, yada yada yada…then came the following question that we have never been asked in 8 years with 4 children. Is their any case of Muscular Dystrophy in the family? Are you kidding me???!!! We have NEVER been asked this ever. I would ask all parents out there have you ever been asked this question. When the answer was yes, he stated that the Dr. would want him tested to see if he has DMD first before removing the tubes as there is a different process for children that have MD. They cannot go under gas but must have an IV for the anesthesia for ANY “surgery” plus other processes must be followed. Understand I also have a 7 year old boy which the nurse said would be the same and would need to be tested!!! He said it will be the same practice until they are around 13 years old. The Dr. came in the room and said that we need to test Coop and Turner. You ready for this???!!! If they test negative, there is still a slight chance they could have it so all doctors will assume the worst and have to utilize the process for DMD children even if my other sons don’t have it. This truly sucks! Traci was tested at Cincinnati Children’s Hospital to see if she was a carrier and we have not heard back yet. If she is not a carrier, then the odds of Coop and Turner being inflicted are slim but they still want us to test Coop. If she is not a carrier based on the test, there is still a slim chance she could be a carrier. Freakin’ crazy!!!! What is the test for then if not to put your mind at 100% ease???? If she is a carrier, there is a 50% chance that all our sons could have it. They are way too athletic and their calve muscles are totally different than Gabe’s. Still…is this a joke? This disease is so horrible that even if my wife tests negative as a carrier, there is still a chance she could be a carrier…why the test then??? We can test our other two boys and they could test negative, but there is still a chance…why test then??? If Traci does tests positive (which I do not think she will as her identical twin sister tested negative), then it is a 100% chance that Addison has it and a 50% chance she passes it on to her boy children and 100% she passes it on to her daughters. I do not want a pity party, but this is not fair!!! All you parents out there, if the tests came back in your favor and it was negative, but there was a 5% chance the test was wrong, you know you would focus on the 5%. Think about it…That is what parents do! What started out as a routine trip to the ear doctor to find out about Coop’s tubes turned in to an upsetting visit as we realized that the potential consequences of this disease touches our entire family. Traci, Turner, Cooper, Addison, Gabe…it sucks! We are confident that Turner and Coop are fine, but as parents, now we have just one more thing to worry about. Once we get back Traci’s results, we will make a decision about testing Coop and Turner as it is painful. If her test comes back negative, that means Gabe’s disease was a genetic mutation that occurred during the pregnancy specific to him with no hereditary contribution and the odds are Addie, Coop, and Turner will be fine. It truly seems that as soon as we get past one hurdle, a larger one pops up. Again, I do not want a pity party, but some of these hurdles are shocking and come out of the blue. The best news of all is that Gabe is just being a little boy! He loves Power Rangers and Transformers and I love to watch him play all by himself as his imagination is awesome. We should know about Traci’s test results soon and whether or not she is a carrier. Please keep the prayers coming and thank you all for your support! Gabe’s Dad
Thursday, April 9, 2009 10:01 PM, CDT
We had our call today with Dr. Kurtzberg from Duke. Wow! What a lot to take in yet again! This call centered on why she feels we should move forward with the umbilical cord blood transplant even though Dr. Kunkel at Harvard has stated otherwise. If you recall, Dr. Kunkel did the biopsy of the child that had both CGD and DMD. His original findings were positive in that the biopsy had donor Dystrophin in the muscle. If you remember, the lack of Dystrophin is what causes DMD. His last email to me said he continues to research and will for about a year but his new findings were not as promising and he did not think we should consider a transplant based on the data from the biopsy. Dr. Kurtzberg disagrees and feels that we should strongly consider it and this is why. She stated that based on the many diseases and disorders she has treated; she believes this will help Gabe. She also stated that a muscle biopsy (like what Dr. Kunkel did), is not necessarily indicative of what is going on in the rest of the body though it is currently the best way to try and gauge the results even though it is not perfect. Most of the feedback I have received from other doctors about diseases treated, like Leukemia, is that you are treating dirty blood with clean blood but with Duchenne’s, you have bad muscles not just blood. Dr. K shared with us that her team has successfully treated nerve disorders (ALD), liver disease, brain disorders (Cerebral Palsy), heart disease, blood diseases (CGD, Leukemia) etc. and the donor umbilical cord blood stem cells have engrafted in these cases and have successfully treated the child. She shared that many of the cases were not just blood diseases but actual organs and muscles were affected yet treated successfully with the transplant. She shared with us that the % of engraftment was significant in many of these cases. However, she said when doing a transplant for a blood disorder, you remove the main pathology. You exchange blood for blood. This is a muscle disease but she feels it will work for all of the aforementioned reasons. She then told us something we have been wanting to hear for some time. She actually recently evaluated the child they “accidentally” treated who had DMD. He was 16 months at the time of transplant and is now 5. He came in on Tuesday and amazing enough, he was clinically normal at age 5. She said he could run, ride a bike (yea!!!), climb stairs, and jump. Most importantly, he does not have the large calves that are typical of a child with DMD, especially a child that is 5 with DMD. His calves are normal and he is showing no regression!!! We asked if he got off the ground with the Gower’s Maneuver and she did not know as she has not circled back around with the MD Neurologist at Duke that evaluated him as well (it was just this past Tuesday and I am sure he is writing it up). The child is being evaluated in Boston, Buffalo, and at Duke and the best news of all, is the child is not on any medicine for DMD and he is 5. Zero, nada and he is able to do the things above. So evidently, his many doctors see no need to have him on steroids, vitamin C supplements, etc. To compare things, when we went to Cincinnati, they wanted to put Gabe on all kinds of meds; specifically steroids immediately even though he was presenting in a mild manner. We have chosen not to go that route until we make our decision about Duke. As I stated before, Duke will do a 2 week evaluation of Gabe prior to agreeing to do the transplant to ensure there are no hidden issues. One of the things that did upset us is part of her protocol will now include a muscle biopsy during her 2 week analysis. A muscle biopsy is quite painful and leaves scarring but this will be part of the process now. It is necessary to successfully understand a baseline and another one will be done in year 2 most likely to see progress. She is currently writing her protocol and will be delivering it to the FDA and the Duke Review Board. This protocol, if approved, will allow her to treat Gabe (in the event we decide to go in this direction). She will use a drug called Fludarabine which is intended to ensure engraftment. This will be a clinical trial when approved by the FDA. She will also use the process I have mentioned before called Aldesort to speed up the engraftment process. It is in a phase 3 clinical trial and she will ask the FDA for a compassion ruling to utilize this on Gabe. There is a process that has come to my attention and I have posted it before. They take Gabe’s bone marrow as a back-up option and store it in the event the new transplant does not engraft. Dr. K shared that they have been doing that for years and would decide after their 2 week evaluation whether that process is needed for Gabe but would do it if we felt strongly about it. If it does not engraft, they use his own bone marrow to “program” him back to his original state. We asked about the percentages of graft-versus-host-disease (GVHD) and if it was sibling, which this is not, it is less than 1%. In our case with a 5/6 donor match, it can be as high as 20% (but not what you would think). 20% is for any signs of GVHD like a rash, fever, etc. so the 20% can be misleading. For serious GVHD, it is in the 5-10% range which is still low but when it is your child, 1% is too high. I know this is a ton of info to take in at once. I do a ton of research and just writing this is overwhelming. I hope and think I have captured everything as this is a great release for me! We will be talking to the parents of the child that has been treated soon and will try to make our decision after we have that conversation with them. I am leaning one way and Traci is not quite there yet but I do think she understands that this is our HOPE and if we do nothing, we know what the outcome will be for our Gabey based on information we have today. But I am so proud of her! She continues to amaze me with her strength and openness. She continues to listen with an open mind and asks unbelievable questions! All you moms out there put yourself in her shoes. It is difficult for her to consider anything that would voluntarily put our Gabey through significant pain…even if it is for a greater good. I cannot imagine going through something like this without her! We balance each other and though I probably don’t say it enough, I am blessed to have her as my wife and my children’s mom. Together we will make the right decision...whatever it may be. Thank you Traci and I love you! Gabe’s Dad
Sunday, April 5, 2009 10:23 PM, CDT
We had an awesome Saturday! We all walked as a family for a friend of the family, Sebastian Lemos while wearing our Cubs gear. Sebastian was a 7 year old little boy that was on my Cubs baseball team. What a great kid! He never complained one time though he was battling Cancer all over his body. What an incredible way to celebrate Sebastian's life by being with everyone he touched! It was an awesome day! That reiterates my question, WHY? This morning, Traci woke up crying (which she does often) asking the question we continue to ask, WHY? This is something that I fully believe we will know the answer to someday. I know many folks say that we may not know the WHY right away but need to be patient. Anyone who knows me knows I am not patient. So I am ready to know the Why? I never thought that when my children went to bed, part of their nightly ritual when saying prayers would be the words “and dear Lord, please make Gabey’s muscles well!” It is very hard when Gabe says it himself as you can imagine. It seems as if everyday that goes by, the rollercoaster of emotions continues. Tonight I had some positive correspondence with a Dr. from Rutgers that believes in what Dr. Kurtzberg at Duke is saying. What he had to say was extremely positive and reinforces what Dr. Kurtzberg at Duke shared with us on our visit to Duke and makes me more impatient for our call with her this Thursday, April 9. For those of you that would like to know what the Dr. at Rutgers said as I know there are many doctors and folks in the medical field following Gabe’s journey, here is what he said:
“Re: Muscular Dystrophy
The studies that have reported effective treatments with umbilical cord blood for muscular dystrophy have used HLA-matched (which Gabe has a 5/6 match) (or sibling cord blood) that do not have the muscular dystrophy gene and used myeloablation (this definition is chemotherapy to wipe out the immune system of a child in order to replace it with a donor’s system)...They have also demonstrated engraftment in that the blood type and HLA of the blood changes to the donor type. This is proof that the cells have engrafted. All these studies used myeloablation. If you do not do myeloablation, the cells are very unlikely to engraft.
Note that if donor cell engraftment is successful, the bone marrow will thereafter produce mesenchymal stem cells that have the donor genes and therefore the cells will gradually replace the myoblasts in the muscle and therefore the muscles. Over time, the muscles will be replaced by muscles without the muscular dystrophy gene. Like all treatments of genetic disorders, the stem cells must come from a donor that does not have the genetic deficit. There is no point in transplanting cells that have the same genetic deficit.
The main question that is unanswered is the extent to which myeloablation (Chemo) should be carried out. If one does what is called "mini-myeloablation", i.e. that kills many but not all the bone marrow stem cells, the donor cells will engraft and you will get a mixture of bone marrow cells that produce the donor and recipient stem cells. This may be all right because the donor cells may be stronger and eventually the cells will be replaced by the healthy ones. It is likely that this will work for all the different types of muscular dystrophy, including limb girdle.
Note that only one group (in China) have reported successful use of cord blood engraftment to treat muscular dystrophy. Why has this been tried so little? For a long time, myeloablation and failure to engraft carried a relatively high mortality of 5-10%. This was considered to be too high a risk. However, in recent years, gentler myeloablation methods and better engraftment procedures (Dr. K wants to petition the FDA in order to use a process called Aldesort on Gabe which increases engraftment percentages) have resulted in 95% or greater engraftment rates. Furthermore, doctors are now taking out some of the bone marrow of the recipient and storing the cells before the myeloablation, in case engraftment does not occur. In such cases, the bone marrow can be re-transplanted back into the patient. A recent series of umbilical cord blood transplants being used to treat thalamessia have shown zero mortality.”
The problem with the above, is it is just one more expert’s opinion that he believes this will work. We are so fortunate in this country to have so many brilliant doctors that are truly trying to find the answers to some of the most difficult medical mysteries out there. It is just so tough as a parent to try and weed through all of the data and opinions and try to make the right decision for Gabe. I have some Drs. telling us they do not believe we should do it and I have some Drs. telling us it will work and all of these Drs. are world renowned. I pray every night that God will give me the strength to make the right decision. But what if we don’t make the right decision??? What if we believe we are making the right decision based on God’s direction but something goes wrong??? Did we not understand God’s guidance ??? As I type this, I sit here with my hands on my forehead thinking through this whole process. It is not like going to the doctor to get stitches because Gabe fell and got hurt. This is essentially redesigning him in hope that the donor (a person he will never know) can help him beat this yet to be beaten disease. Am I crazy to believe Gabe is THE ONE TO BEAT THIS??? I pray every night that I am not crazy...Gabe’s Dad
Wednesday, April 1, 2009 10:26 PM, CDT
I want to start by thanking everyone for their thoughts and prayers. The many churches that have posted on this site, the friends and family that post and send cards as well. Not a week goes by that we don't receive a few cards at home from a church saying they prayed for Gabe today. There are only two things we have going right now; prayers and hope. Those are the two things that keep us going so thank you for every prayer, kind word, wishful thought, etc.! In line with the word hope, Traci and I have joined the Board at The Muscular Dystrophy Association and are proud to be part of a fundraiser that is the first of its kind. The fundraiser is called Derby for Duchenne (which is Gabe's disease) and will be held on May 2nd at The Wine Loft in downtown Birmingham. Many folks continue to ask what they can do to help and this is definitely something we could use help with at the moment. This will be a Kentucky Derby theme since May 2nd is Derby Day. We need as much help as possible with silent auction items, ticket sales, etc. If you own a business or know someone who owns a business that would be willing to donate some items to the Derby, that would be incredible. The Derby is tax deductible and we can provide a 501C3 to the person providing the auction item. We also would like to invite all of you to attend the Derby for Duchenne event. We would love to see you there. For more information about the derby, please see www.derbyforduchenne.com. If you have questions, want to donate some items to the event, or would like to purchase tickets, please email us at scottandtraci@bellsouth.net. Thank you all in advance for ANY help you can provide. No item is too small or too large. Many items may be bundled with other items to solicit high bids. 100% of the money raised will go to the research of Duchenne Muscular Dystrophy which has never been done before. Typically it goes into a larger Muscular Dystrophy bucket and the money is split among the many Muscular Dystrophies. The money raised at this event however, will go directly to the research of Duchenne MD. Your help with this event would go farther than you can ever imagine. Not only would this help Gabe, but all of the other children that have this horrible disease. Please let us know if you have any questions. Again, we can provide a 501C3 if needed. Please just send us an email. Thanks for all of your support and prayers! Gabe’s Dad
Thursday, March 26, 2009 7:48 PM, CDT
It has been a stressful week as we are anxious to talk to Dr. Kurtzberg at Duke since she still recommends we should strongly consider the umbilical cord blood transplant though Dr. Kunkel at Harvard thinks otherwise. As you can imagine, Dr. Kurtzberg is extremely busy and travels the world to speak quite a bit. As a result, she will not be available until Thursday, April 9th and that is when our conference call is scheduled. The days will go by way too slow as we are ready to hear why she thinks this will still work! We anxiously await this call! Quite frankly, I am ready to have enough information to make a decision so we can move forward one way or another. Traci may disagree with my previous statement, but the roller coaster simply eats at you day by day. One day you believe one thing and the next, you are not so sure. I truly believe that God has put Gabe in this place to make believers out of everyone through his victory over this disease. That day cannot come soon enough...Thank you for all your thoughts and prayers. It is amazing to us that so many friends have posted on this site as well as so many folks we don't know. Each time we read the guestbook, it sends chills all over my body and helps to get me through the day. Please keep them coming as it has been unbelievable! Gabe's Dad
Friday, March 20, 2009 9:43 PM, CDT Before I update the journal, I wanted to start by asking everyone that visits this site to pray for a little boy named Wilson Rowlen. Wilson
is a 5 year old fighter that is on my baseball team and happens to be one of Cooper's (one of my sons) best friends. He was recently diagnosed with Lymphoma and through prayer; we can beat this for the little guy! Even though this reinforces my question as to "WHY???”. I truly believe in the power of prayer. I hope to one day know the "WHY???”. Thank you all!! As an update to Gabe's journey, we received the answers from Dr. Kunkel at Harvard about a week ago. The answers were not too positive and I did not post them immediately for that reason as I wanted it all to soak in. I also wanted to talk to Dr. Kurtzeberg at Duke first as she had not seen this update from Dr. Kunkel. She had major email problems, as we can all relate, but when she finally responded, I was shocked by her response. I fully expected her to say that in light of this new information, we should not move forward. But on the contrary, she said she felt like we should still strongly consider the transplant option and wanted to talk to us again real time on the phone as it was complex, but she felt it would work. You can imagine our confusion and dilemma when we have Dr. Kunkel at Harvard, the doctor who discovered the DMD mutation in the late '80s, saying he does not see a reason to do the transplant based on his analysis of the CGD child's muscle biopsy, but Dr. Kurtzberg at Duke is saying the opposite. She is world renowned and has cured so many horrible diseases that others thought would be impossible and she believes this could benefit Gabe. As info, Dr. Kurtzberg treated the child with Cerebral Palsy that appeared on the Today Show, Oprah, and The Doctors and he is said to be close to cured. She is amazing as this is among many of the children she has successfully treated and/or cured. I do not know why she believes we should still move forward with the transplant even though Dr. Kunkel (the father of DMD) said he did not see a benefit. We should find out the reason why she believes this in the next week. I have asked her for a conference call with our doctors to talk through why she feels this will be a success for Gabe even though Dr. Kunkel thinks otherwise. A good friend of mine that does research told me that scientists (like Dr. Kunkel) look at nothing but numbers and he is basing his opinion on the muscle biopsy of the thigh of the CGD child. He also told me that in many cases, you need to strongly consider how the child is doing clinically. This child is currently clinically normal and is almost 5. Maybe I am reaching or dreaming, but that is something I am strongly looking at now. Why is he clinically normal??? I pray every night that God gives me the strength to understand WHY little children like Gabe, Wilson and others must go through this pain. I fully am of the belief that there is a reason for everything and a reason WHY things happen. I am ready to know the WHY! May God bless the Rowlens!!!...Gabe's Dad (Coach Scott)
Wednesday, March 11, 2009 10:35 PM, CDT Just a quick note...I emailed Dr. Kunkel at Harvard tonight. He is the doctor that did the muscle biopsy on the CGD child that also had DMD. I asked him the following questions:
1) How much donor Dystrophin was in the muscle biopsy (5%, 10%, 20%, etc.)?2) How did you know that it was all donor Dystrophin and that none of it was contributed by the child himself?3) Based on the biopsy, do you know or feel that the Dystrophin is throughout the body including the heart wall?4) Would you say the amount of Dystrophin found is in the "useful range"?5) How much donor Dystrophin was found and was it the protein or the messenger RNA, and, in either case, how much?6) Do you believe there is reason to believe this will work in another child? I know Dr. K recently "cured" a child with ALD which conceptually they seem similar.
I will let everyone know his response. Please pray it is a positive response as this is all we have currently. This is one of the last items Traci and I need addressed to start the process of trying to make an educated decision about the transplant at Duke. More to come…
I dream about Gabe every night. Some are great dreams and some are not so great. Last night I had a "melt down" after watching Gabe's video. It was much needed. I cannot recall a time that I have ever cried so hard for so long...even as a child. Traci held me in her arms and cried with me. I went to Gabe's bedside and held is "moon boots" and prayed for this dreaded disease to go away! He looks so healthy, this is just crazy!!! Some times having a moment like that re-energizes you and makes you stronger and more determined than ever! That is how I feel now. I know this sounds strange, but afterwards, it actually felt good having a major cry like that. I think it is healthy from time-to-time. Traci was wonderful last night. She is amazing and if Gabe is forced to go through something like this, I could never ask for a better partner in attacking this disease! I love her all my heart...Gabe's Dad
Tuesday, March 10, 2009 5:34 PM, CDT
Please click HERE to see a video about our precious Gabe. I recently read an article and journal where Dr. Kurtzberg (Dr. K) successfully treated a child with ALD via an umbilical cord blood transplant. Out of curiosity, I am interested in knowing from a conceptual perspective, how similar is ALD to DMD (conceptually)? I realize these are totally two different diseases. I know this sounds crazy but ALD is impacted by the breakdown of the myelin sheath (membrane) around the nerves via the lack of a protein called a transporter protein and DMD is the breakdown of the membrane around the muscle via the lack of a protein called Dystrophin.
{Adrenoleukodystrophy (ALD), is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is one disease in a group of inherited disorders called leukodystrophies. Adrenoleukodystrophy progressively damages the myelin (membrane), a complex fatty neural tissue that insulates many nerves of the central and peripheral nervous systems. Without myelin, nerves are unable to conduct an impulse, leading to increasing disability as myelin destruction increases and intensifies. An essential protein, called a transporter protein, is missing in sufferers. This protein is needed to carry an enzyme which is used to break down very long-chain fatty acids found in the normal diet. Lack of this protein can give rise to a build-up of very long-chain fatty acids, (VLCFA) in the body which can damage the brain and the adrenal gland.
DMD – is an inherited disorder in which Dystrophin is part of a complex structure involving several other protein components. The "dystrophin-glycoprotein complex" helps anchor the structural skeleton within the muscle cells, through the outer membrane of each cell, to the tissue framework that surrounds each cell. Due to defects in this assembly and missing Dystrophin, contraction of the muscle leads to disruption of the outer membrane of the muscle cells and eventual weakening and wasting of the muscle. Muscles are unable to rebuild.}
I have asked Dr. K the following "Conceptually, from a transplant perspective and what the stem cells were able to do in the ALD child could this be used as another case that should support the treatment of a DMD child via this transplant? Especially when you consider your success with the CGD child you already transplanted that also had DMD." I anxiously await her response. I will also be trying to contact Dr. Kunkel tomorrow since I have not heard anything through any of the other avenues I have tried. What do I have to lose right? Thanks for the continued support...Gabe's Dad
Thursday, March 5, 2009 9:35 PM, CST
Well, we made it home! It was a long trip, but Traci and I took our time enjoying every moment we had with Gabe alone. We stopped in Cave City, KY
and took him to Dinosaur World! It was kind of cheesy, but he loved it. He talked about it for the next two hours..."Mommy/Daddy, where the dinosaurs?" It was awesome. If you ever find yourself in Cave City, KY , I highly recommend you check it out, but don't be too anxious! We also stopped at the Alabama welcome center so Gabe could see the huge rocket just outside of Huntsville. He thought that was amazing and now wants to be an astronaut. He said he already has the "moon boots". These are the orthopedic boots he has to sleep in at night to stretch his muscles. We all refer to them as his "moon boots". Anyway, as you can imagine, the trip back gave us a bunch of time to reflect on our visit to Cincinnati Children's and reflect on our journey to date with Gabe and what lies ahead. As you can imagine, the discussions were tough but needed. I am working with some folks that have other foundations and have way more funds than we do. They actually have researchers on payroll working on their behalf and to defeat this DMD beast. They have committed to me to have their researchers talk to Dr. Kunkel at Harvard about the muscle biopsy of the CGD child that Dr. Kurtzberg treated with umbilical stem cells. As I was recently told, everyone has an agenda, most doctors included, but the parents of children with DMD all have the same agenda, save their child at all cost! I am hopeful that in the next few days, I have some information from Dr. Kunkel. Keep your fingers crossed! Once we got back, there was an incredible rush for the door by Turner and Addie (Coop was at baseball). They ran right by Mommy and Daddy and went straight to their Gabey. It was an awesome sight. Coop got home shortly after that and forget Mommy and Daddy, it was all about Gabey. I think they understand that something is different with Gabe. Turner and Coop actually made comments like "did you get Gabey's muscles fixed while you were in Cincinnati?" They love him so much!!! I will write more as I have additional information. But in the meantime, thank you all for your thoughts and prayers. We can feel the love and our family needs it. The toughest of times lie ahead and we need to be educated enough to address them. No matter what decision we make. Please check back...Gabe's Dad
Wednesday, March 4, 2009 6:52 PM, CST Today was a tough day. Traci got tested to see if she was a carrier (she won't find out for 3 weeks) and Gabe got a blood test to establish a baseline going forward. He also had to get an X-ray of his hand to measure bone thickness as DMD patient’s hands tend to draw up as the disease progresses. He already has a little draw up of his fingers when his arm is extended (palm on a table and extending the arm straight up off the table). He bends his fingers off of the table just a little bit to accommodate the tight muscles. The toughest thing on this trip was seeing all of the other children with this disease. Though we have been to our clinic in Bham, there are not near the children there that visit Cincinnati Children's. The varying ages are so tough to see. And to think that we do not know when this could progress to what point down the road. The unknown is one of the most difficult things of this disease. To look at his adorable face and to wonder, when will it start changing? One of the things Traci and I noticed on this trip is that the faces of all the older children change so dramatically due to the dying muscles. It literally tears me up inside to know that my child's beautiful face could turn into one that reflects pain and struggle through the various muscles that go away and draw up. It was a very tough thing to attempt to accept and we have not fully come to terms with that yet. The tough part about today was our blood test scheduling was all messed up and we had to wait over 2 1/2 hours for the order to get to the hematology department. Gabe was again an ANGEL! Not once did we have to correct him or ask him not to do something. We are so proud of him as he is growing into such a fine little boy! It helps that Turner, Cooper, and Addie were not here to antagonize him or to be antagonized :-}. Dr. Wong's care coordinator (Wendy Bommer) came down and talked to us after the blood scheduling mess up. What an awesome lady. She has an incredible gift of listening. We stressed our concern that there may be a lack of willingness for the doctors to simply pick up the phone and make a call to Duke and Dr. Kurtzberg to discuss the CGD boy and what they did at duke with the transplant. She truly listened and said she would bring it up again in their staff meeting. We explained that we were not looking for anyone to bless what we are considering, but we just wanted someone to take ALL of the DMD boys into consideration and pick up the phone and have a call with Dr. K at Duke and Dr. Kunkel at Harvard and become educated on what they have done in the CGD child and his DMD. A simple phone call...that is it. At the end of the call, their opinion may be that no one should do this but at least they are making an educated decision. I explained to her that in the female CP patient that Dr. K transplanted, 10 months after the transplant over 50% of the cells in the ssubject’s brain were the umbilical stem cells of the little boy engrafted in the brain and were working. In a little boy with a heart disease, after month 10, over 40% of the umbilical stem cells were that of a little girl donor and were engrafted and working to repair the damage in the heart muscle wall. But the amazing thing is when they looked in the CP patient’s heart, the stem cells were not there, they were only in the brain working as that was where the damage was and her heart was normal. Conversely, when they looked at the brain of the little boy who had the heart problem, there were none in his brain as it was normal but they were in the heart. I know this is hard to follow but believe me, this is remarkable and I think this is what is being overlooked by many folks. The umbilical cord blood stem cells are "programmed" to go where the damage is located. This is why they work in so many other diseases in which the transplant is utilized. Absolutely incredible! My hope is that they find this intriguing enough to pursue further. She understood our concern and heard us loud and clear so hopefully she will be able to accomplish something positive. In the meantime, we shall continue to move forward with more research and I am going to try and reach out to Dr. Kunkel myself. What do I have to lose, right???! We will be leaving to head back to Birmingham tomorrow since our Thursday meetings were all canceled. Another disappointing part of the trip as the genetic doctor is on vacation in Mexico and the nutritionist is on maternity leave. We have TRULY enjoyed every moment with Gabe on this trip as we both have not been with just him for this long. What an unbelievable and incredibly strong little boy! I wish everyday that he could transfer his strength, innocence, and perseverance to me. He is what gets me up in the morning and keeps me going late at night. As we say in our house, I love you all my heart Gabe...Gabe's Dad
Tuesday, March 3, 2009 9:45 PM, CST
Today was SOOOO overwhelming! We arrived at Cincinnati Children's around 8:15 EST for our first appt which was PT. The PT was an informative session about what type of stretches we can do for Gabe and how to keep him walking as long as possible. As you can imagine, some of the information was not so positive as Gabe did not like having his leg muscles stretched. The PT thought Gabe's night leg braces were a good fit and she was thrilled that Gabe has been wearing them for the last 2 months. He wants to get his sister some pink "moon boots" and his friend Beau some "star wars" boots. He doesn't have a clue! At 10:30 we had a dr. appt with Dr. Wong’s partner, Dr. Pierre. He was awesome. Gabe really took to him. We talked about alot of things including the potential transplant at Duke and he did not seem too receptive. He was unaware of many of the things Dr. Kurtzberg at Duke had done including her CP treatment with umbilical cord blood stem cells (which aired on the Today Show, Oprah, The Doctors) but remained open-minded. He actually is interviewing for a job at UAB and Children's Hospital!!!! Let's ALL hope he gets it as he would bring a wealth of knowledge to the neuromuscular clinic at Children's. In the afternoon, we met with Dr. Wong. She is awesome! She evaluated Gabe and the GREAT news is that she and Dr. Pierre both thought Gabe was expressing a mild case of DMD as he could jump, was fast getting off the ground and could run pretty decent. This is good news even though it does not change the outcome. It just means that he has not progressed as far as other children his age. We attribute that to having 3 siblings :-} We spoke to Dr. Wong about Duke and the potential of an umbilical cord blood transplant and initially she was also not too receptive. She was under the impression that what we were referring to was something Dr. Kurtzberg did in Boston years ago. Once I explained to her this was discovered about 8 weeks ago via a muscle biopsy at Harvard by Dr. Kunkel, she was astounded and curious. Long story short, she is willing to work and talk to Dr. Kurtzberg going forward as we decide on the transplant potential at Duke. This is not only a good news story for Gabe, but for all DMD patients! Tomorrow Traci goes to get tested to see if she is a carrier and whether or not Gabe got it from her or if it was a random mutation that just took place during pregnancy. The results will be the lesser of two evils as you can probably imagine. Gabe will also be tested to see what his vitamin D and Calcium levels are currently. Because we were not able to meet with the genetics doctor or nutritionist on Thursday as they had conflicts, we will probably head home early. It is rare that we only have Gabe with us so we will probably stop along the way to do something special with just Gabe. As info, if any of you moms have gone to a doctor or Children's in Bham on the weekend or after hours and have seen your child go nuts while waiting all the long hours to see a doctor then you will appreciate this comment. My Gabe was an absolute angel ALL day starting at 8:15 est and going until 5:00 est without an issue. He was incredible but passed out when we got to the hotel room after we went swimming! He is my hero! Gabe's Dad
Tuesday, February 24, 2009 8:51 PM, CST
We leave Monday (3/2/09) for the entire week to go to Cincinnati Children’s Hospital to meet with Dr. Wong. She is a world renowned DMD doctor and we have had this scheduled since last year. This is unrelated to our Duke trip, but the Drs. at Duke fully believe this will be a great trip to get an idea of how strong Gabe is in the event we move forward with the transplant. This will include meetings with cardiologists, pulmonologist, PTs, OTs, Speech Pathologists, and anyone else I may have left off the list. The great news is after this week, we should have an idea of just how ready Gabe would be for a transplant in the event we move forward! It is important to understand what is involved in the transplant and why he needs to be extremely strong. Here is the scary process as it was described to us at Duke. He will undergo a detailed 2 week evaluation where they look in every nook and cranny of his body for any infection, tumors, etc. They are looking for anything that could impact the transplant. On day 13, they would start chemotherapy for 12 days. As you can imagine, chemo could be life threatening itself. This chemo will wipe out his bone marrow and his white blood cell count will be zero. The doctors are going to petition the FDA for a compassion ruling that will allow them to utilize a procedure called Aldasort that is not currently FDA approved. It is in a Phase III human trial and has been extremely successful to date. If granted (which they feel certain it will be) it will speed up the engraftment process of white blood cells from 27 days to 20 days and of the platelets from 60 - 90 days to 43 days reducing the risk of infection. On day 13, they will do the transplant. They said it is very anti-climatic...just a simple blood transfusion for about 15 mins. For the next 3 weeks, the effects of chemo present...vomiting, diarrhea, sores in the mouth, severe pains in the stomach and let's all hope nothing else as what I have mentioned here is not considered life threatening. Traci and I will have to be with him 24 hours a day. She will take 12 hours in the morning so I can continue to work and then I will take 12 hours at night and spend the night with him. Again, this is if we decide to do this transplant. He will pretty much live in a bubble for 55 to 60 days at Duke University. If all goes well, we can move him to our temporary home at Duke where we must stay for approximately 5 months. Thanks to Grammy and family for agreeing to all pitch in and help out with Turner, Cooper, and Addie!! The total recovery period if everything goes well is about 2 years. We pray everyday for guidance from Him as this is not what we signed up for as parents. As they say, we did not ask to be dealt these cards, but we must play them. Thanks for everything...Gabe's Dad
Monday, February 16, 2009 9:04 PM, CST
We set up a meeting with the Drs. at Duke this past Monday (2/16) and learned that she believes by utilizing the donor stem cells, the donor stem cells will engraft in Gabe's muscles and produce donor Dystrophin (which is what Gabe lacks and causes DMD). We spent all day at Duke with the Dr. and touring the facility. It was an overwhelming day but we believe we now at least have a choice. Gabe would be the first child in America in which they have utilized this process to "intentionally" treat DMD. We are excited and scared but though we have not made our decision they are moving forward with getting FDA approval, medical review board approval, drafting protocol, etc. in the event we do move forward. Though there is a risk of graft versus host disease and a chance of infection, Traci is more optimistic then I have ever seen her throughout this and I am so proud of her. We compliment each other well and need each other to get through this. We also need all of you as well. Thank you for your thoughts and prayers. I know the original post to bring everyone up to speed was a long one (My Story) along with the first Journal post (dated 6/15), but you should now be up to speed of our entire journey to date and we will do our best to update going forward day by day as we receive news. Thanks for checking in...Gabe's Dad
Sunday, June 15, 2008 8:57 PM, CDT
After we found that Gabe may have MD, we contacted our incredible pediatrician Dr. Jamie Odrezin and requested that a CPK test be performed. She sent off the test and we waited the results knowing that he DOES NOT HAVE IT! The test came back and we knew it immediately in Dr. Jamie's hello. The normal range is 0 - 190 and his came back at 20,000+. Our world, hopes, dreams, as we knew it just ended with one phone call and 5 words, "he has Duchenne’s muscular dystrophy"...I still picture very day Traci curled up in the fetal position screaming at the top of her lungs, not my little Gabey! Not my little Gabey! We both cried the rest of the day but as the dad, it is my job to make thing right. I knew we had one thing on our side and that was we kept 3 of our children's umbilical cord blood when they were born (Cooper, Addie, and Gabe). We did not know about it when Turner was born or we would have kept his as well. Finally as parents we did something special that could save our child's life. Immediately I went into research mode and the first night was up until 4 in the morning researching umbilical cord blood stem cell transplants to treat MD. Surprisingly, I found adult stem cell and embryonic stem cell research to reverse DMD in lad rats and dogs. One doctor was in Italy and one was in Houston. I contacted both immediately and they responded quickly both saying that this is far from being ready for humans and their human trials will start with 6 or 7 year old boys, Gabe is 3. Still holding out for hope. Every night I Google, yahoo, search WebMD, every night until the wee hours of the morning and it eventually paid off. I joined a blog of doctors and acted like a doctor who had written up his case about Gabe. A doctor from Rutgers who treats spinal cord injuries and brain injuries with umbilical cord blood stem cells suggested I contact a Dr. at Duke who has had many many successes using these to reverse Fanconi's Anemia, cerebral palsy, Leukemia, CGD, etc. I sent her an email on Jan. 3, 2009 explaining we had all of these stem cells and she responded within 15 mins saying she felt they could help. I ran upstairs and screamed at the top of my lungs we have HOPE, we have HOPE! We contacted our pediatrician and set up a conference call with the doctor at Duke and Dr. Odrezin. The call went well. She informed us that they "accidentally" reversed DMD in a child that had CGD. The DMD was downstream from the CGD mutation. She felt like this would work for Gabe. The next step was to do HLA Low Transparency Typing for Cooper and Addie to see if they match Gabe. Dr. Jamie was incredible and scheduled it in two days. The blood was sent off and we needed to get at least a 4 out of 6 gene match for the stem cells to work from Addie or Cooper for Gabe. We just knew we were going to get a break. The test results came back and Addie was a 3/6 and Cooper was a 0/6...NO MATCH! We were devastated again. Like getting the news of the DMD all over again. The Dr. at Duke said we could still find someone who donated their child's cord blood (an unrelated umbilical cord blood stem cell donor). She proceeded with an international search and found several 5/6 matches for Gabe. The rollercoaster of emotions continues and now we are on a high. Thanks for your support! Gabe's Dad
Gabe's Story - The Beginning...
This all started when Gabe was just a baby. When we would place him in the crib in the morning he was exactly in the same position as when we put him down. His twin sister was moving all over the crib, but not Gabe. Traci immediately had concerns but we were told he was a twin boy and was probably delayed from his twin sister. He finally started rolling over and crawling but his hands and arms would give out and he was hitting his head on the hard wood floors alot. So much, he was wearing a toboggan as cushion when he would crawl to protect his head. At 15 months, Gabe had been walking about 2 months but was falling down alot. His legs appeared to be giving out and his head would continue to take the punishment. The toboggan could only help so much. We knew that something just didn't seem right. Traci demanded action so a C-Scan (partial) MRI was done. Nothing showed up, but as they were getting Gabe out of the MRI, the machine was still running and captured something. Another MRI was scheduled at a later date and as a result, it picked up a Sryinx (fluid filled cyst) on Gabe's spine at T3. At last we had our answer, or so we thought. Gabe's neurosurgeon, Dr. Oakes, has some concern because he was so young but did not see a correlation between Gabe falling and the Syrinx. We still believed we had our answer. A MRI was scheduled 6 months out to see if it was getting larger or smaller. His concern was if getting larger, then spinal surgery may be needed at a later date. Fortunately, the Syrinx was getting smaller at the 6 month MRI. Another MRI was scheduled for 12 months out. During the next 12 months, Gabe continued to exhibit some strange symptoms that we related to the Syrinx. All along, we were being told by friends, family, etc. that Gabe was a boy twin and was simply "delayed" like most boy twins. Traci started to notice a delay in specific areas, motor and verbal skills (specifically jumping, climbing stairs, running, and a speech delay). Traci is unbelievable! She would not rest so we got services in our house for PT, Speech, etc. She is amazing. Gabe started showing a significant improvement in all areas. We were finally feeling better about our son! In the mean time, the 12 months had come and gone and we had another MRI done and it was getting even smaller. The risk no longer existed according to Dr. Oakes. After Gabe turned 3, we had him tested in order to continue to get the services in our home. After we had Gabe tested but had not received the results, our neighbor who happens to be an OT was baby sitting Gabe and noticed how he got up off of the floor. It is called the Gower's Sign. The child gets up by sticking his bottom into the air and uses his hands to walk up his legs in order to stand up. This evidently is a dead ringer sign for Muscular Dystrophy (MD) in the medical community. She did not tell us immediately because as you can imagine, that is something extremely hard to break to your closest friends and neighbors. After a few days and under some tears, she approached Traci and asked if we had ever had him tested for MD. Traci was shocked as no one had ever mentioned that term to us before....ever. If you know my wife, you know what comes next...late nights on Google, WebMD, and the Internet researching literally thousands of sights for information. There is no way this could be true. All we knew was "Jerry's Kids" and wheelchair bound children. But as the research came in, no one in our household was ready for what we were finding. A terminal disease with no cure and a life expectancy in the late teens, early twenties. You have got to be kidding us...a little boy who has a twin sister born to an identical twin (Traci), born with a Syrinx, and born with MD. We just did not believe it. After we received the opinion of our neighbor, the test results came back and Gabe graded off the charts with a motor skill percentage in the 95th percentile. They laughed and said he did not qualify for in home services as he was so far advanced. What a great story!!! We did not believe he had MD and at this point, Traci said I know he does not have it, let's get this over and have him tested. What a strong lady! Have I said how proud I am of her!!...Gabe's Dad
Before I get into the update on Duke and the FDA, I would like to announce that our web site and 501(c)(3) non-profit organization is now live and you can follow Gabe’s journey at: www.hopeforgabe.org. Please go to the site and forward to your entire email distribution list. There is a donation button, updates on Gabe, DMD information, Hope for Gabe merchandise for purchase, an information database, etc.
But now to the FDA…I have put this off for as long as I can as I am starting to lose faith in the Duke protocol. Dr. K contacted me around July 31st and stated that the FDA came back yet again with questions about the potential protocol for Gabe and she was shocked. This means it is delayed at least another 60 days. I must admit, with all the other trials that are taking place and the advancements that are being made with these trials, it is difficult to think of Gabe going through chemo and radiation at Duke for a procedure the FDA continues to question. There are many DMD families out there that may be disappointed in my comments but the FDA is responsible for keeping the safety of all patients in mind. I know she has done incredible things with metabolic disorders but there are still so many questions around stem cell treatments for DMD. Dr. K is a brilliant doctor but without FDA approval, there is nothing for us to consider and every time they delay it, our minds wonder and question if it will work. I think this is human nature.
I want to send out a special thanks to several coaches that I currently coach with in different sports. I want to thank Will Griffin, Dennis Wood, Rich Bartlewski, Jeff Alexander, and Donnie Maddux for dedicating the Chelsea White Hornets 105lb football team’s season to Gabe and possibly putting patches on the kid’s jerseys that say H4G with the web address underneath H4G to raise awareness. We are honored even if it does not work out. Thanks goes out to another coach I coach with, Jim Baker, for dedicating Cooper’s team’s season to Gabe as well. He got Gabe a jersey to be part of our team…WOW! Another kudos goes out to yet another coach I coach with, Adam Metzger, who has agreed to coach Gabe’s fall ball baseball team. He was going to do softball with his daughter but when he found out that I wanted Gabe to play normal fall ball baseball he said there is no way he would miss Gabe playing and wanted to coach! We are so blessed to be around creative folks that come up with these unique ways to get the H4G word out and want to be a part of special moments in Gabe’s life. It is awesome to see 5 year old Gabe touching these folks in such an incredible manner.
To wrap up, please start visiting www.hopeforgabe.org on a regular basis and forward this web address to EVERYONE in your contact list. This is what you can do to spread the word and raise awareness! Thanks for all you do and make sure you watch the videos at www.hopeforgabe.org.
Gabe’s Dad
Sunday, July 4, 2010 11:32 PM, CDT
Traci and I made one of the hardest decisions we have had to make in Gabe’s Journey to date. We had to make the decision to start Gabe on steroids or not. If Duke had their preference, they would want us to hold off, but all the other trials out there (Exon Skipping, Utrophin, etc.) require steroid use for at least one year prior to enrollment with a steady dose for at least 6 months. We have thought long and hard on this one as well as prayed every day for an answer. After Traci attended the CONNECT conference in Denver that Parent Project Muscular Dystrophy put on, she came back with a ton of information regarding steroids and every bit of it was positive. She called me the day she got out there crying really bad. She said the first thing she saw when she walked in the hotel lobby was a 10 year old boy in a wheel chair and she was not ready for that. However, every single speaker she heard put her in a better place and for one of the few times, I heard major optimism in her voice…YEA! She said the steroid discussion was one of the most positively intriguing. As a result, we bit the bullet and started him on Deflazacort (steroid from England) Thursday. It may be psychological, but his energy is way higher, his climbing ability is better, his running speed has picked up, and he is starting to look like a normal little boy! Because he’s on steroids, we have to watch his calcium, sodium, calories, vitamin D, fluids, fats, and sugars DAILY so if anyone has any good low sodium, low fat recipes, please send them our way!!! It is very important to understand that this is NOT a cure and only a band aid but I must admit it is going to be incredible to see him be as close to a normal little boy for a while! He will even be able to play normal baseball though he will get tired easily and need to have a substitution but this is awesome!!! My little red head will get to experience close to a normal childhood for a while! It is kind of bitter sweet as you get used to seeing your child close to a normal child and then that eventually fades away but we are going to try and revel in his soon to be new normal and put the reality on the back burner for a while. Don’t get me wrong, I will still be researching and trying to find the best treatment for Gabe but I must admit it is incredible to see the changes so quickly and more positive ones are to come. I will do my best to not become one of these parents that view this as a cure AS IT IS NOT A CURE! But it sure will be nice to see him doing things his brothers, cousins, friends, and classmates can do! Dr. K at Duke finally said that starting Gabe on steroids would not eliminate him from a trial but with all the other trials that are currently taking place; we will be analyzing Duke and their protocol like never before. As info, we have officially been designated a 501(c)(3) by the IRS so all donations will be tax deductible!! There will be more to come regarding this along with the launch of our web site so please stay tuned. Though we have many things going on (normal job, creating a foundation, building a web site, raising four kids with 2 in sports, coaching multiple teams, researching trials worldwide daily, being a nutrionist, etc.) this could not be accomplished without the help of you guys! Your rock and please know that you are appreciated more than you will know! Today we went and watched an Oak Mountain tournament game in Elkton, Al (don’t ask where this is as it is ridiculous to get to) and on the way there Gabe asked a question that I knew was coming but really did not want to hear. He asked “Daddy, why can’t I run fast like other boys?”…How in the world do you answer that???!!! I simply said “Little buddy, the medicine you are taking will make you run fast really soon!” He said “but daddy, I really want to run super fast like my brothers and Brooks (his best friend and next door neighbor).” WOW!!!!! He is starting to see the difference already and he is only 5. I had to hide the tears through my sunglasses and simply say “buddy, your day is coming…l PROMISE YOU!” Thanks for all you do! Gabe’s Dad
Wednesday, April 28, 2010 1:46 AM, CDT
SEE MORE SPAIN PARK PICTURES AT http://www.caringbridge.org/visit/gabegriffin
Folks – I wanted to update you on a piece of good news I received while on the way home form Coop’s baseball game tonight (which we won by the way). I know many of you have been following our journey and for the most part, it has been centered on Duke and an umbilical cord blood transplant at Duke. Though we keep pursuing Duke, those who know me realize that I am researching all avenues and will not rest until we have something that can potentially beat a currently unbeatable disease. During some older posts, you may recall the term “exon skipping”. This is where a molecule is given to the patient and it tells the brain to skip the deletions. We were excited and concerned about the recent news surrounding exon skipping and the fact that skipping multiple genes would potentially be lower on their radar then a single deletion. If you recall, Gabe’s deletion is 44-47 so he is missing 44, 45, 46 and 47 in the gene sequence. After my correspondence with the Australian doctor (THANK YOU TRACY SECKLER!!!!) we received the following good news…I will cut and paste so the below is the complete correspondence:
On 25/04/10 9:09 AM, "GRIFFIN, SCOTT T (ATTOPS)" <sg5736@att.com> wrote:
Steve- I hope this email finds you doing well! Tracy Seckler is a good friend of mine (see below) and our boys are battling the same disease, DMD. First let me start by saying THANK YOU so much for your research, efforts, and determination regarding Duchenne. We are closer now then we have ever been and I believe something positive is right around the corner.
Tracy suggested I reach out to you and see if you can tell me what exon or exons my son Gabe Griffin needs skipped and is there a sequence optimized for that yet? His deletion is 44-47 so my hope is you are already in the process for this deletion sequence. If not, what would it take to get a sequence started or created? My son will turn 5 on May 13, 2010 and though he is relatively young, as you can imagine, we are excited about the potential! I anxiously await your response. Again, thanks for your determination! It means more than you will ever know...
Steve's Response:
“HI Scott, we have developed a number of oligos to correct deletions in the hot-spot and we have a few working nicely for exon 43 (at least in cultured cells) and this is what would be needed for Gabe.
We have had oligos made and tested for this exon a few years ago and are continually updating and refining all of them. I have attached an old paper showing our oligo list. Type 1 are good, Type 2 are OK, type 3 are lousy and type 4 are “special cases”. You will see from the list that exon 43 AO was type 2. This has since been modified and is now a type 1 (i.e. good).
We are still tweaking and hoping to start some compassionate trials in Australia in the near future on the basis of being more effective than exon 51 oligo in current trials.
Cheers for now, Steve”
It is absolutely amazing to me that these brilliant doctors take the time to respond like this and genuinely care about beating this horrible disease. I am not saying Duke is no longer in the picture, but we will have to take in all the possibilities before making a decision for Gabe. It is a double edged sword in that we are starting to have multiple choices and will hopefully have the luxury of making a choice unlike many children before Gabe. Please let us never forget the children before Gabe that have paved the way to get us where we are currently. They are heroes and we never need to forget that!One other thing I wanted to mention…The Spain Park High School baseball team has selected Gabe for their first annual fundraiser in May (May 13th to be exact). The players will be playing the faculty and coaches and selling tickets. We went and met the players last Wednesday and needless to say, Gabe had an incredible impact on the players. I spoke to them briefly but the impact was made by my beautiful red head blue eye boy! We were leaving their field and two of the kids ran out after us and gave Gabe a Spain Park baseball cap (it actually fits him). The next day, Traci got a call from a mom who has two boys on the team and she said that Gabe made a tremendous impact on the team. After we left they got together and talked about what they could do for Gabe. When I talked to them, I mentioned that we needed two things, 1) Awareness and 2) Money. They were trying to figure out how to raise awareness for Gabe as the money piece would be covered by the game. They decided that instead of wearing their usual black tape or white tape on their wrists, they would wear RED tape for his hair color. It doesn’t stop there…they dedicated their playoff games vs. Pelham this last Friday to Gabe and wanted us to attend. We show up and the players were wearing the red tape on their wrists. But what was even more incredible was what was on the tape; each kid had written their own message to Gabe. Traci zoomed in with her camera and took some pictures which will be posted. The tape said things like H4G (Hope for Gabe), Win for Gabe, Gabe, Gabe Griffin, Hebrews 12 verse 1-2, etc. One of the kids who plays SS (I think) was on deck and saw Gabe at the fence. Keep in mind this is a playoff game. He was swinging his bat and saw Gabe and immediately turned around and said Hey Gabe Buddy…there was a net and a fence. He put his hand through the net and Gabe put his hand through the fence and pulled on his fingers. The kid said Gabe, this hit is for you! I know this sounds like something out of The Natural but the kid got up there and hit a freakin triple! Gabe probably did not realize what had just happened since he is only 4 but I can promise you one thing, Mommy and Daddy darn sure knew what had just happened and though they lost, that triple for us was like winning the State Championship! You ROCK Spain Park High School! Go Jaguars!!! Gabe’s Dad
Monday, March 29, 2010 11:37 PM, CDTIt has been a long time since my last post but only because we have not had any real news to post. We have been very busy with baseball practice, games, dance, swimming, and all the other things little kids do at this time of year. If you recall, we were waiting for Duke to meet face-to-face with the FDA and discuss the protocol that Duke wants to perform on children with metabolic disease first and then once approved, she would follow it up with a DMD addition. Well, they had the face-to-face and the meeting with the FDA went very well. Dr. K believes they resolved all of the issues with the original protocol. They have to send some changes back to them this week. Then Duke will resend the protocol through their IRB (review board). Once approved by the FDA and Duke’s IRB, they can amend to add kids with DMD. I am not sure of the timeframe associated with this but can only assume it will may be another 90 days at most. I can tell you, things have dragged out for so long, it is hard to stay motivated about the potential at Duke. Especially when you consider the advancement with other trials currently taking place…Exxon Skipping, Utrophin, Stem Cell Injections to major muscle groups, etc. This disease that Gabe has consumes Traci and me every single day. The pressure is immense to make the right decision. This isn’t like a baseball game where you have to make a very hard decision about a position. These are life or death decisions. What if we choose Duke and it doesn’t work and for the next 24 months my little 4 year old red head has to go through hell for something that may not work. What if we choose Costa Rica and the injections don’t work…the pain associated with getting 47 shots to every major muscle group three times (that is 141 shots to the major muscle groups over a period of time) and there is no guarantee that will work either. The problem is there is NO guarantee! It is not like you go to a doctor and he says, “you have strep, take this medicine and you will get better or this is going to be the course of treatment and this has been shown to work in the past.” We cannot find a single doctor that will guide us so this one rest solely on our shoulders. You want to talk about pressure??!! It is so difficult to take an otherwise normal little boy (he can feel, talk, run, love, play, cry, laugh, etc…) and voluntarily put him through some pretty awful things and HOPE it works! This decision rests solely on our shoulders and all we can do is try to be as educated as possible, as strong as possible, and maintain HOPE that we are being guided down the right path. With all this baseball stuff going on right now with Coop and Turner, Gabe is starting to ask questions and make comments like when can I play, when I grow up I want to pitch like Turner, I am going to play tackle football at Alabama…It is tough to hear that and keep a dry eye when I say “your right booger, you are going to do all that!” My HOPE is that we make the right decision and he is able to watch his brothers play all of these sports well into their late 20s and beyond if not play them himself.
Many of you continue to ask how you can help and what you can do…here are some things we have going on right now and if one of these areas interest you, please let us know. We are starting Gabe’s foundation, Hope for Gabe. We are waiting on our 501(c)(3) designation from the IRS. We have been approved at the state level and are waiting on the IRS in the next 60 days (we hope). If you are interested in being on our fundraising committee, please let us know. We have a Board of Directors and many folks have already offered to be on the fundraising committee but we believe you can never have too many. The next area that may interest some folks is our 2nd annual Derby for Duchenne Muscular Dystrophy on May 1st at the Matt Jones Art Gallery here in Birmingham. We are looking for auction items, corporate sponsors, or folks that just want to buy tickets. If you have any auction items or want to sponsor, please email Traci and me at scottandtraci@bellsouth.net. If interested in tickets, you can contact Traci or me or you can simply go to http://www.derbyforduchenne.com/ to buy tickets (click the Buy Tickets button). Third, as many of you know, the word HOPE means the world to us and Gabe! Traci has started selling her HOPE necklaces and WHAT A RESPONSE…WOW! THANK you to those who have already purchased the necklaces! If interested in a HOPE necklace for Easter, Mother’s Day, or any reason, let us know at the email above and we can ship one to you if needed. Lastly, if you have not already and you are on Facebook, please join Hope for Gabe, Inc on Facebook at: http://www.facebook.com/search/?q=hope+for+gabe&init=quick#!/group.php?gid=370030475519&ref=search&sid=100000897100430.603539213..1. This way you will be up to date with everything regarding our foundation. Traci does a great job updating the site and eventually it will be updated with fundraising events, educational items, updates on Gabe, etc.
It is time for me to wrap this up. I am sorry for being so long-winded but this is therapeutic to me in a strange way and it has been a while since I have written. I will end with this…“For I know the plans I have for you,” declares the Lord, “plans to prosper you and not to harm you, plans to give you hope and a future.”-Jeremiah 29:11. Today's pain may be preparing us for tomorrow. That's where the part about "a hope and a future" comes into play. Although God has put each of us in the place where we are to do His work today, He’s looking down the road to where we will be days, weeks, and even years from now. He wants us to be ready not just for today or tomorrow, but also for our last day here. I can promise you one thing, I will fight with everything I have in me to ensure that Gabe’s last day will be well after mine! Thanks for everything you all have done and continue to do…
Gabe’s Dad
Sunday, January 31, 2010 5:32 PM, CST PLEASE CONSIDER HELPING US FIGHT THE #1 GENETIC KILLER OF BOYS IN THE WORLD!!!
...and HOPE does not disappoint because the love of God has been poured out into our hearts through the Holy Spirit that has been given to us. (Romans 5:5)
When our beautiful son Gabe was diagnosed with Duchenne Muscular Dystrophy a year and a half ago, Traci’s sister gave her a beautiful necklace with the word “HOPE” on it to encourage her everyday. On that day and for a long time after, we did not have hope. We felt like the future for our son had been laid out in front of us. Everything that we had planned for our family and for Gabe was over. It’s a feeling we cannot describe. As time went on, we came to realize that we had a choice to make. We could take the path of despair or take the path of HOPE. While we will always have the visions of what life would have been like without DMD in our family, we cannot stop thinking about the possibilities of a treatment/cure and the positive impact that this disease will have on our family as well! We are getting stronger and are so blessed to have Gabe and so many supporters in our lives. Traci tells him all the time, you are my “angel from heaven,” “my hero,” and “my best friend”, and he’ll say, “but Mom I just want to be a kid, I don’t want to be a hero today!” We don’t blame him….that’s a lot to carry on your shoulders!! We know God has so many plans for Gabe….we just know it!! Traci and I look at the word HOPE differently now. It used to be about things so far in the future….now it’s about having a great day NOW!!! Along our journey, we have also come to realize that everyone has their own struggles. There will always be someone in a worse situation than you. You could stand in a line of people with problems or challenges, and there would always be somebody behind you that is struggling more. We try to remember not to compare our situation to someone else (although it can be hard), because we do not know their journey. Be kind to everyone everyday!
We wanted to write because we are currently in the process of receiving our 501c3 status for our new foundation in honor of Gabe….the Hope for Gabe Foundation (more details to come later). We wanted to take this opportunity to share with you our first fundraising idea…although it’s something small, it’s something very dear to our heart. We would like to sell Traci’s HOPE necklaces to anyone who needs inspiration, comfort, or HOPE right now in their lives (click on the above picture or go to the PHOTOs tab at the top and click on the necklace for a larger picture). The necklace could be for someone suffering from cancer, going through a divorce, challenges with a special needs child, unemployment, or just trying to find their purpose in life. We all know someone who is struggling…it may be us. We hope that this necklace might give them the encouragement they need to keep going or just bring a smile to their face. It’s not always easy to find the right words to say to someone in their time of need. Every time Traci puts her necklace on, she says she thinks about what HOPE means to her. We will fight this fight because we have HOPE. Please let us know if anyone would like one for themselves or as a gift…Traci is selling them for $29 or you can get multiples for $25 each. She has about $9 cost in each necklace, so approx. $20 per necklace will go into Gabe’s fund to help us find a cure for Duchenne Muscular Dystrophy. They are .925 sterling silver, come in 16” or 18” lengths, and she can ship them if you need her to. If you feel the need, please forward to any of your contacts, churches, Facebook contacts, etc. If anyone is interested in purchasing a necklace(s), you can email us at scottandtraci@bellsouth.net or call us at 205-527-4798. Thanks for the support!
One more thing, please mark your calendars and save the date for the Muscular Dystrophy Association’s second annual Derby for Duchenne (Kentucky Derby themed event) to be held on May 1, 2010 at the Matt Jones Art Gallery in Birmingham. It’s a blast!!! Just ask anyone who attended last year as we had a packed house and exceeded our goal significantly. Please plan on attending as your support is greatly needed and appreciated! We will send out more information as the time gets closer and I am sure we will come calling for help!!!
May God bless you always,
Gabe’s Dad and Mom
Scott and Traci
P.S. If you don’t have a cause near and dear to your heart, please consider helping us fight the #1 genetic killer of boys in the world. WE NEED TO RAISE AWARENESS AND MONEY!!! We need people to be on our fundraising committee for our foundation to come up with great fundraising ideas, contacts, auction items, sponsorships, etc. If you feel led to help, please contact Scott, (205-542-1069), Traci (205-527-4798) or Andrew Caldarello (205-685-5924).
P.S.S. We really want to thank Meredith Rowlen (here is where we plug Meredith Rowlen Photography!!) for taking the picture of the necklace for Gabe. Her family has been an inspiration to our family!!!!!!
Friday, January 15, 2010 8:30 PM, CST The updates and news continue to be quite frustrating. Dr. Kurtzburg contacted us again and yet again, unfortunately, after scheduling a face to face meeting in December, the FDA called right before the meeting and cancelled it. Now, they've requested more information before they will meet. We realize this is very difficult, but we have no recourse but to do what they direct us to do. Duke is working on the response to them now and we all HOPE the meeting will be soon.
On a side note, there is a contest out there right now where a foundation could win one million dollars to go towards research. PPMD (Parent Project Muscular Dystrophy) is one of the leading charities that is focused on ending Duchenne Muscular Dystrophy, which as you know, is unfortunately what my 4 year old little son Gabe has. We need everyone's vote for them to win $1 million dollars to help push their clinical trials forward...we are getting so close to a treatment!! I will post about this at a later date very soon. PLEASE, PLEASE, PLEASE take 1 minute to cast 1 vote for 1 million dollars. There is no cure, it is fatal, and he is worth it!! Everyone is worth one minute!! Let me know if you have a problem finding it by emailing me at scottandtraci@bellsouth.net …you can only vote once for each charity but you get 5 votes. Darius Goes West is another organization that is funding clinical trials for DMD along with Charley's Fund too. They could use your vote as well. Thank you from the bottom of our heart!!!!!!!!!!!!!!!!!!! Here is the link:
http://apps.facebook.com/chasecommunitygiving/charities/301212?src=wallpost&ref=mf
You can also help us out by posting something about the above message that is in bold blue font to your Facebook profile page if you have one. Make sure to include the link but remember you are limited to a certain amount of characters. Feel free to change it to make since on your page. You have no idea what this would mean to our family!
Gabe’s Dad
Tuesday, December 22, 2009 10:42 PM, CST
This update and news is quite frustrating. Dr. Kurtzburg contacted us and said they answered all of the questions from the FDA and re-submitted. The FDA came back with another laundry list of questions. Dr. K is frustrated as well but there is little we can do until they approve it or decline it. They appear to be doing this with all applications for stem cell therapy at this time as many of her colleagues are experiencing the same frustrations. Duke had a call scheduled with them yesterday, but the FDA cancelled it this past Friday afternoon and requested they have a face-to-face meeting with them instead. Duke is setting that up ASAP. So we are essentially stuck until this happens. After the meeting with the FDA, hopefully Duke will have the knowledge to give them what they want to allow us to proceed if we decide to go in that direction
The good news is that the child they transplanted almost 6 months ago with the same protocol that is in front of the FDA, remains engrafted with donor cells. Our hope is that after the face-to-face meeting, the FDA will give them the green light to move forward and then shortly after the approval, she can go back to the FDA to request the addition of DMD as one of the diseases to be treated. See previous posts for details.
I am asked often about a foundation for Gabe so here is an update on that topic. We are in the process of filing for Gabe’s 501(c)(3) status for his foundation through the IRS and have already secured the appropriate state approvals. The federal forms will be sent off tomorrow to the IRS. So many folks have helped me with the development of his foundation and have stepped up to help serve on the board, help with the filing/paperwork, or in some other capacity like developing the web site (soon to be underway). The name of the foundation is Hope for Gabe and the web address will be hopeforgabe.org (currently not operational but soon to be). When we met to talk about the goals of the foundation the first thing that came to mind is to give HOPE to all the children that have this horrible disease by raising awareness, money for research, and a support system to help others cope with this horrible disease. I want Gabe’s legacy to be one that shows others that through persistence, determination, and not giving up, you can beat anything…even things that are currently unbeatable! We want this foundation to be able to make a real difference and contribute to institutions that we believe are close to a cure or treatment for DMD. I truly believe that this foundation WILL make a difference simply because the people that are involved and surround us with offers to help are all so determined to make sure he lives a long long life.
We are so fortunate to be surrounded by so many folks that care and are all willing to help or support us in so many different ways. A special thanks goes out to Ed Reisinger who helped us with the paperwork for the foundation at the state level and federal level. A special thanks as well goes out to Andrew Caldarello, Mike Wilburn, and Dr. Kelli Blessey for wanting to sit as board members on the foundation. A special thanks goes out to Patrick Denney and Van Gladney for getting me in touch with Congressman Spencer Bachus who supported the MD Care Act and has supported my charge to get MD children supported with PT/OT services through the county school system. Another special thanks goes out to Andie Mango and Lissy Hutcheson for their help yesterday around the house and finally, thanks to Brian Copenhaver who has agreed to help us with the foundation web site.
I am sure I may have left folks out of this posting…like people who help us carpool kids to practice while Gabe has therapy at Lakeshore Foundation or other neighbors that watch our kids on short notice because we are in transit from different Gabe appointments and can’t get the kids off the bus. Regardless of whether you are mentioned here or not, you know who you are and hopefully you know how much your support means to us!
I will wrap this up by saying thanks for everyone’s thoughts, prayers, and support! Because of you, we have the strength to do the things we are doing and through our efforts, HOPEfully we will keep Gabe walking longer, which makes him live longer, and gives more time for a cure to ultimately beat this disease! My Christmas wish is one of HOPE and I HOPE we get the news we are wanting to hear from the FDA as a New Year’s gift! I HOPE you and yours have a very safe and happy Holiday Season! Gabe’s Dad
Saturday, November 28, 2009 8:41 PM, CST
I apologize to everyone for my delay in posting an update. I guess time got away from me. I will be quick as there is not a whole bunch of news to report. But if you believe I will be quick, you must have logged on to the wrong web site. We found out on November 11 that Duke was fully expecting approval from the FDA but instead, got a laundry list of questions about the protocol that she is requesting their approval for and what she ultimately wants to perform on Gabe (see the previous post for details). Dr. K said this is quite common and they will answer the questions as quickly and as detailed as they possibly can and at that point, the FDA will have another 30 days to either ask more questions or simply do nothing which signifies approval. I will keep you posted. I realize that the common theme in my family’s life now is one of HOPE and you will find that this is a common word used throughout my posts. As Thanksgiving has just passed and though my family and I struggle sometimes to make sense of the cards we have been dealt, we still fully believe that as long as we have HOPE, we have a chance to beat this horrible terminal disease. I want everyone who reads this post to understand that me, my family, and especially Gabe have many things to be thankful for at Thanksgiving. Specifically the incredible, amazing, and persistent doctors that circle the globe who will never give up until they beat this disease. And it seems that when you get a piece of bad news (like the FDA asking more questions instead of approving the protocol), you get a piece of good news. As many of you know from either talking to me or reading these posts, my son and many little boys like him that have this disease, do not produce Dystrophin which essentially rebuilds his muscles and stops them from dying. Without Dystrophin, all of his muscles will die (like his heart) and ultimately will cause his death by the age of 15-20 years old. But because of incredible doctors across the globe, we have HOPE. We have HOPE today that was not available to the little boys that lost their battle to this disease prior to Gabe. The research I do at night has made me realize that information typically does not just show up in your email inbox or on your VMS. You have to go looking for it! It does not simply come to you! As a result, I found an article on an amazing case dated October 20, 2009 regarding a DMD patient and a doctor that was willing to think “out of the box”. Ironically enough, it may be because the patient had no HOPE left and they were willing to try anything to save their child’s life, even at his age. A doctor recently used adult and umbilical cord blood stem cells on a 23 year old man who has Duchenne Muscular Dystrophy, like Gabe, and a year after his procedure, he is still producing NORMALlevels of Dystrophin and getting better, stronger, and healthier every day!!!! NORMAL LEVELS OF DYSTROPHIN! Not a little bit, smidgen, or a tad…but NORMAL! All Gabe needs to produce is roughly 5-10% the normal level of Dystrophin (depending on what doctor you ask) and this 23 year old man is now producing NORMAL levels of Dystrophin. Please do not read this as they have cured DMD, but read this as doctors who will not give up and have done something that has never been done to date, is not legal in the U.S. yet, but is somewhat similar to what Dr. Kurtzberg is wanting to do to Gabe. Dr. K was extremely excited about this doctor’s findings and will be contacting him to investigate their protocol and compare it to the protocol she is wanting to do on Gabe as there are some differences and a ton of questions yet to be answered about this patient/procedure. Sometimes it takes someone to think out of the box and not worry about what some medical blog site may say or what their peers may think or say. I want each of you to click on these two links in order below. The first one is the actual journal write up and the second is a news story that was done on this case.
First Link - http://www.distrofiamuscular.net/news.htm
Second Link - http://www.kake.com/home/headlines/69538137.html
My HOPE is that after each of you have seen the above links, you too will realize that right now, the best thing Gabe has going for him is HOPE. I will close with two definitions that may not be “Webster’s” but are my definitions:
1) HERO – One who is endowed with great strength and courage!
2) HOPE – Believing something so GOOD can come from something so BAD!!
You are my hero Gabe and through God, we have HOPE!
Love,
Your Daddy
Wednesday, September 30, 2009 9:41 PM, CDT
Well, this has been a day we have been waiting for for over 60 days and Dr. K did not disappoint! We were anxious to hear whether or not the non-myeobalative procedure (low dose chemo) worked on the child she recently treated. We got on the phone and after exchanging some plesantries, she said I will not keep you in supsense any more but it appears to have worked!!!!!!!!!!!!!! The child had 98% engraftment at day 60 and of the Lymph cells, on day 30 they were at 33% and day 60 were at 57%. This is huge!!! The child did not have a muscle disease but had a metabolic disease. The incredible part is the jury has been out on these non-myeobalative procedures and Dr K. appears to have had success. She stated the next step was for the FDA to review her protocol and approve or deny. They have already come back twice with questions about the protocol in which Duke has responded. Duke is now waiting on the FDA to rule. She did tell us that the protocol she submitted to the FDA did not include Muscular Dystrophy but this was done on purpose. She said if you have multiple disorders associated with a protocol, it makes it very difficult to get approved and the red tape drags out. She said by only submitting metabolic diseases as being treated by this new protocol, the review period is quicker. Dr. K. also stated that once they approve this protocol (probably late October or early November) she will submit an additional disorder to be treated by this protocol about two weeks later (Muscular Dystrophy) and the process is much quicker. Once they submit Muscular Dystrophy, the FDA has 30 days to decide and if Duke hears nothing after day 30, they can start enrollement for MD children (Gabe). However, she did warn that many times the FDA will wait until day 30 and place a hold on the new disorder. The FDA then has another 30 days to come back with questions in which Duke will answer quickly. The FDA then has ANOTHER 30 days to either accept, deny, or ask more questions. If they ask more questions, the 30 day process starts all over. If they deny, we will get other folks involved. If they do not reply at all, this signifies acceptance and she can start enrolling. To make this simpler, she believes best case, she would be able to enroll Gabe by the first of December and worse case early February but she believes it will be approved because it is a lower dose of chemo procedure. Now for the most incredible part of all, at least for me. If you recall, Dr. K. was originally going to treat Gabe with a high dose chemo wiping out his system totally and he would have zero white blood cells for some time. Ironically, she then decided to switch gears about August timeframe and move to this non-myeobalative (low dose chemo) protocol. The interesting thing here is that this new protocol involves a round of raditiation right before the transplant (see previous posts) which the previous protocol did not. Today I was provided a link for an article out of London dated August 4, 2009 (about the time Dr. K changed her direction) that outlines a DMD study that used raditiation successfully in mice. Here is the link: http://www.muscular-dystrophy.org/research/news/1235_promising_new_evidence_
Please read the above link as this is a remarkable article but here is a quote:
“Prior to the transplant the mice were given a dose of radiation to deplete the number of existing muscle stem cells. This ensured that any muscle regeneration was exclusively due to the transplanted muscle stem cells. The research showed that the transplanted muscle stem cells were able to regenerate the older dystrophic muscle just as well as in the young mdx muscle…Interestingly, the researchers also noticed that the radiation treatment seemed to enhance the ability of the transplanted stem cells to regenerate muscle. In fact, the transplant was only successful in the older mice if they had radiation treatment...This study provides promising evidence that stem cell therapy might be effective in older individuals affected by Duchenne muscular dystrophy with damaged muscles as well as younger individuals with healthier muscles."
This is huge for all DMD paitients young and old (old being 10 to late teens). I hope each of you can see the amazing connection between the article and Dr. Kurtzberg’s change in direction. She stated today that she would much rather perform this new procedure on Gabe as it is much much safer and not near as risky as the original high dose chemo protocol. It has never been more evident to me than today that Dr. K. considers and reviews all the ongoing and completed studies that are out there to make the best decision for her paitients. This is truly what we need. I will post the next time I have any major news but right now we are just waiting for the FDA approval to come through before we make a final decision. Thanks for all the thoughts, prayers, and most importantly, thank the Lord we have HOPE! Gabe’s Dad
Tuesday, September 1, 2009 8:02 PM, CDT
I know that folks are waiting for an update and unfortunately we have not had a call with Duke yet. We received a call today from Duke and a call has been scheduled for September 30. I was concerned that the reason they put it out another 30 days was because they did not see the type of results they were hoping for but after speaking with Duke, that is the first day Dr. K is available since she has been out of the country for so long. We will post something soon as I plan on sending an email to Dr. K to ask how things with the other child went in regards to the new protocol. Hopefully she will be open and not make us wait until 09/30. On a side note, my dad passed away this weekend after a long battle with Alzheimer’s and was buried today. He was 81 and it was time. Thanks to all the thoughts and prayers and a special thanks goes to those who made the journey to Montgomery for the visitation. I now feel even stronger about Gabe’s options as we now have an ex-Major Air Force pilot watching over Gabe to ensure only the best things occur with Gabe! I will miss my dad more than anything but I am so glad he is no longer in any pain, has found a brand new body, and all of his memories have been restored. Though my children have a brand new angel to watch over them, I am so so ready for some good news!! Gabe’s Dad.
Sunday, August 16, 2009 8:11 PM, CDT I wanted to add a quick update as we keep being asked if we know anything based on my last post. I know it has been a while, but it means the world that everyone keeps asking for an update since there has not been an update lately. As a result, I wanted to get an update out so everyone knows a status. As info, Dr. Kurtzberg from Duke is out of the country until August 25th. We hope to have a call with her soon after that date to understand how the other child is doing and if the new procedure appears to have worked or not on the child (see my last post for more details). The 30 day wait period has come and gone for this child so we are as anxious as anyone to hear the update on this child. To reiterate from my previous post, this is a low dose chemo treatment versus the original high dose procedure she originally was looking to perform on Gabe. Once we have had our call with Dr. K, I will update Gabe’s site. Please keep praying that this new process worked on this child. Even if it did work, there is still potential it may not work on Gabe’s DMD but at the very least, the mortality rate due to chemo goes from 20% to less than 2%. Thanks for all the thoughts and the hands that have been laid on my family in prayer. The support from everyone and Dr. K’s research gives us more HOPE than you can imagine. Gabe’s Dad
Monday, July 13, 2009 10:21 PM, CDT We have been waiting to talk to Dr. Kurtzberg on this call for some time and needless to say, she did not fail to deliver! She has been looking to transplant a child with a non-myeloablative procedure, which is little to no Chemo, and she has now done that. This patient had a leukodystrophy disease and the donor stem cells should be engrafted within the next 30 days. She said she is 80% sure the cells will engraft in the child’s blood stream and ultimately end up in the child’s brain where the disease is based on her research. Here are the details of our call.
Previously, she was considering doing a high dose of chemo (if you remember, 13 days of chemo to wipe out all of his cells and immune system) but this protocol is extremely aggressive and serious complications could occur. This procedure also carries a 15 - 20% mortality rate. This new procedure she has used on this child is a reduced intensity protocol which as mentioned before, is less chemo and less dangerous. Still dangerous, just less dangerous by a significant amount. This protocol is much easier on the child. However, the prep time for the procedure is longer. The prep time for this procedure is 2 months yet the prep time for the high dose Chemo procedure is only 2 weeks. The great unbelievable news is that the child she has just treated in this fashion has spent no extended time in the hospital. The regimen is as follows:
Gabe would be given a 4 day course of Campath 2 months out – then go home
Then he would be given another 4 day course of Campath 5 weeks out – then go home
He would be given a small does of chemo 5 days out – then go home
1 dose of radiation (which was not part of the original process) 1 day before the transplant
Receive the transplant – then go home
This is such incredible news as the original way, we would have to live at Duke for 6-9 months and this way, the child they have tried this on has not spent ANY prolonged time at Duke. They have done this on other children (some with Sickle Cell) with tremendous success. The great news is this is considered a “silent conversion” in which his bone marrow cells are not killed off but keep protecting him from infection as the new cells “grow, engraft, and eventually take over for his cells”. The process of the new cells taking over for Gabe’s cells is Chimerism. The trial she is developing will be for non-malignant diseases with a specific focus on genetic diseases. To her knowledge, there is only one other facility including genetic diseases and that is Kentucky where they are doing this for MS and adult organ transplants. Duke is the only facility doing this in children with genetic disorders. She stated the key is to get the cells to engraft in the blood stream first. The cells are processed differently but are more likely to engraft. In earlier posts, I spoke of the use of ALDHbright cells, but with this process, she will utilize what is called a facilitator cell along with some ALDHbirght cells. In 30 days, she will know whether or not this has worked on this child. Within 30 days, the cells should engraft and the blood converts to the donor’s. Since this child’s issues are in the brain, they will do tests to ensure that the cells engrafted in the child’s brain. She brought up something that made so much sense to me…she stated that by utilizing the high levels of chemo, all parts of the child became sick and as a result, the new cells may have less of a chance to engraft. The high chemo process still works, but there are more issues with it. With this new process, there are also no sterility issues or growth issues since you are not wiping out the child’s white blood cell system. With the other process we were discussing with Dr. K, there was a 20% mortality rate associated with the process (mostly from the 13 days of Chemo) and with this new process, the risk related to Chemo goes to less than 2%.
As info, Traci and the kids have been at her parent’s house this past week and will be coming back tomorrow. As a result, we took the calls from two different places. The incredible thing is though I was not there with her; I could see her smiling through the phone as the call went on and on. The chemo part of this has always been the major issue with her and though there is still a risk of Graft versus Host Disease, the major risk of the Chemo treatment has always been her concern, and rightfully so! But this call was different, she had a little pep in her words as the call went along and when it was over, I could tell she was smiling so much. Don’t get me wrong, this sucks that we have to go through this, but you must look for every little positive sign as you go through the process and when you consider everything that has happened to date, today we got some positive news! This was well overdue! Gabe’s Dad!
Monday, June 22, 2009 9:58 PM, CDT
As I keep researching, fortunately, so does Duke. I sent an email to Duke asking where Dr. K is in her process with the FDA and are we still looking at a potential July time frame in the event Traci and I decide to move forward? Here is the response from Duke:
“Dr. Kurtzberg is still out of town, but she did want me to relay that she is waiting to see the results of the first transplant with reduced intensity conditioning, before finishing the DMD study proposal.
We have set up a phone conference for you with Dr. Kurtzberg, for Monday, July 13th at 4:00pm EST. This way, Dr. Kurtzberg will be able to answer the many clinical & technical questions you have”.
The important phrase here is first transplant with reduced intensity conditioning. This means she has tried what she wants to do with Gabe on another child using a non-myeloablative procedure which means little to less to no chemo. This is huge as this COULD mean Gabe would not have to undergo aggressive chemo if this trial is a success and if we decide to do this. It also means that his immune system would not be suppressed for as long as the original plan. The biggest issue has always been immuosupression and the threat of Graft Versus Host Disease as a result. This could help address those issues. You can read about the trial at: http://clinicaltrials.gov/ct2/show/NCT00744692. It is evident to us that Dr. K is trying everything in her arsenal to ensure the children she treats goes through the least amount of pain and risk when she treats them. This is a good thing! It will be interesting to hear on July 13 how she believes this new process could potentially help Gabe’s disease or if that is even in the cards for him??? We anxiously await that call! Gabe’s Dad
Tuesday, June 16, 2009 10:05 PM, CDT What a week!!! We spent the week at Disney World. We got back this past Monday evening. There are no words of gratitude that can truly express how grateful we are to one of Traci’s childhood friends from Enterprise for helping us have our magic moment with Gabe. We will NEVER forget it!! We got to eat dinner with him, his wife, and beautiful daughter and got to catch up on the last 20 years! It was also a special trip in which Grammy was able to go as well as my sister. I know they will have memories that will last a lifetime. All the kids were so thrilled they came along but especially Gabe. He loves his Grammy and Aunt Steph. I know Gabe did not have any idea as to what he was in store for at Disney World, but he does now! He still keeps talking about the Power Rangers he saw as they signed his autograph book. He also was amazed by the Star Wars characters that were EVERYWHERE! It was a Star Wars special weekend at Hollywood Studios…what a time to go. They were all there walking around, signing autographs, walking in parades, etc. His favorite was Darth Vader (or Dar Bader as Gabe would say it). I must share a story with you…all Gabe had been talking about was Thunder Mountain as he saw it on a Disney video. He was so excited when we were walking up to the ride and was saying “I go faster”. We knew it would be close height wise but thought that since we had a special needs pass and this was a magic moment trip, the person would be understanding. As we walked up, she said he needed to be measured. I set him down with a hat on and she asked that we take the hat off. His hair was over the bar so I thought she was going to let him go but instead, she pressed his hair down and he was about ¼ inch too short. I thought for sure she would let him go but she said no. He started balling! We explained the situation and Traci was crying now and she was pretty direct in her answer by saying “he cannot ride it as it is a safety issue”. Traci and Gabe were devastated. My sister, the other children and I went ahead and rode the ride, but I was pretty fuming. When I got off the ride and saw Gabe crying so hard he was doing the no breathing thing…parents know what I mean, I said this is not going to happen this way. I picked him up, walked back up to the line, waited for her to be distracted and walked right up the ramp. We rode the ride and Gabe screamed “I go faster daddy, I go faster” the whole ride. It made my trip!!! We walked off the ride and he was screaming to Mommy, I did it Mommy! I am big and I go faster! Mommy was now crying but from tears of joy. We learned from that experience. We went to CVS and got Dr. Scholl’s foot pad inserts and I cut them to fit his shoes. We took them with us every day from that point on and when we got to a ride that was 40 inches, we would put them in upside down to give him even more of a lift. He was measured at every single 40 inch ride and I am happy to say, he passed every time!!! I had to carry him the whole time while the pads were in as he could not walk but he passed every time and rode everything…rides like Soaring, Test Track, Star Tours, and even rides at Sea World. It was awesome and worth it! I would do it again…
As I continue to write, we keep researching and even though we realize there may not be a huge sign out there directing us, it is amazing to us how things continue to pop up in the strangest places. A perfect example occurred on our trip to Disney. The last day (Sunday) we decided to spend the day at the resort playing in the pool, playing putt putt, video games, ping pong, etc. We are all in the pool and I am playing in the pool with Coop and Turner while Addie and Gabe are up with Mommy and Aunt Steph playing in the shallow end. I noticed that Traci has been talking to a certain lady for about an hour. I decided it was time to get out for a while so I dry off and go over to where Traci and Aunt Steph are talking to this lady. I walk up and the first thing out of Traci’s mouth is, “you are not going to believe this!” Of course I can’t imagine what it could be as they have been talking for a long time. It turns out that out of all the people visiting Disney, out of all the resorts in Orlando, out of all the many buildings at our resort, out of all the different weeks people could choose to go to Disney…the woman sitting next to Traci was in a coma/paralyzed for 10 years from an accident. They decided to do an unrelated donor stem cell transplant on her and she is now normal with the exception that her left leg drags a little. Unbelievable!!!!! She was in a coma and did nothing for 10 years until the stem cell transplant and here she was sitting next to Traci at our resort telling her amazing story. I wish I had bet on those odds in Vegas…think about it for a second. Out of all the people in the world that went to Disney that week, this woman stayed at our resort and sat right next to Traci…admit it…that is absolutely remarkable! She had some incredible insight and it was an incredible story! She is writing a book and we exchanged information so we can keep in touch going forward. I truly believe this entire trip was a gift from God…from Traci’s friend’s precious gift to us, to Grammy and Aunt Steph being able to share in this special trip for Gabe, to the woman that was in a coma for 10 years prior to a stem cell transplant sitting right next to Traci at the pool…what a week!!!! Gabe’s Dad
Sunday, June 7, 2009 11:17 AM, CDT
I wanted to post a quick note with a few links to show the power of stem cells. Please go to this link and watch the news cast. There are a group of doctors in Italy that have been working in the lab on this for some time using golden retrievers. I have been corresponding with them via email for about a year now and they hope to have a human clinical trial in the next year based on my discussion with them this week. Though this is different then what Dr. Kurtzberg at Duke is looking to do to Gabe, this video truly shows the power of stem cells and what can be accomplished through funding, persistence, and brilliant doctors that truly care! They utilize the DMD patients own stem cells by altering them in the lab which avoids rejection of the cells. Click on this different link to see another video that demonstates the power of stem cells. Take a look and I am sure you will be as hopeful as I am. Gabe’s Dad
Monday, June 1, 2009 11:28 PM, CDT
I know it has been a long time since my last post, but during this time is when Traci and I have been thinking about everything and weighing all of our options. I knew this would be a difficult process and it would be extremely difficult to make a firm decision about the transplant but it seems as if every time we get to a place where we are ready to make a decision we talk to someone else or something happens that sways us the other way. We still have not made a decision and it’s mentally exhausting. We actually went and looked at the elementary and kindergarten schools in Enterprise, AL in the event we move forward with the process. This is where Grammy and Papa live and where Turner, Coop, and Addie would live and go to school if we decide to do the transplant. We would be away from them for about 5 months...This truly sucks!!!
We had a great discussion (based on where I am in the process) with the mom who’s son had a terminal disease called ALD (Adrenoleukodystrophy). You may recall from a previous post that in my opinion, this disease seems conceptually similar to DMD though it is a nerve disorder and DMD is a muscle disorder. The similarities are that ALD affects 1 in every 18,000 boys/DMD affects 1 in every 3500 boys; ALD symptoms present between 4 and 10/DMD presents between 3 and 6; in both...boys develop normally until the onset of symptoms; ALD is caused by a genetic mutation and a lack of a transporter protein/DMD is caused by a genetic mutation and a lack of a structural protein; There is an adult onset form of the disease that is milder/DMD has a milder form called Becker's; ALD is a breakdown of the membrane that surrounds the nerves and as a result the nerves cannot signal the brain appropriately causing neurological deficits/DMD is a breakdown of the membrane that surrounds the muscles and as a result the muscles cannot re-build, both are highly hereditary passed down by the Mom and I could go on....the conversation with the ALD child’s mom was so informative. She and her sister both had children that had ALD and they decided to go through the transplant process at Duke together. One child was 2 and the other was 8 years old. This is significantly important because of the age difference. As Dr. K at Duke told us earlier, the age matters when doing a transplant and if under 5 the better, the next cutoff is 8 years old and at this age, it is more risky. Recently, the 2 year old child, now 9 (I think) has been declared cured of ALD, the 8 year old child now 15 (I think) is also cured of ALD, but he had serious Graft Versus Host Disease that affected his nervous system. As a result, the child is cured of ALD, but now is confined to a wheel chair for life. Though this is such a horrible outcome and our thoughts and prayers go out to them, it appears as if he will have a normal life expectancy though in a wheel chair. This is such a win when you consider ALD children have lost their battle by the age of 12 typically. After our discussion, Traci and I were moving a step closer to our decision. It is just so difficult to pull the trigger on a decision when we know if we do nothing and though we know the outcome, we will still have Gabe with us for another 15-16 years and we can make memories. We understand the last several years will be awful, but we still have memories. On the other hand, Dr. K believes this will help him to some degree and there is the potential of the possible cure. There is a first for everything, ALD, Cerebral Palsy, CGD, Leukemia, Sickle Cell, etc. There was always the first one.
Then today, we talked with one of Gabe’s doctors at UAB Children’s Hospital here in Birmingham and it was an informative discussion. This doctor was not quite as positive as the ALD mom and others we have talked to that have been through the process but his candidness was most welcomed (based on where Traci is in the process). He simply stated that we need to be as educated as possible when we make the decision and once it is made, there is no looking back. Though we have heard this before, it helped tremendously to hear it from one of Gabe’s doctors here in Birmingham. He actually made a great suggestion that we had not thought of and that was to contact another world renowned umbilical cord blood transplant center (like Seattle or Minnesota) and talk to them about the statistics for an unrelated cord blood transplant and ask them about this type of transplant for a DMD child. It appeared to me in his voice and comments that he was not in favor of us deciding to do this at Duke though he never stated that as a matter of fact. He did explain to us that he was the doctor for a child that had a 6/6 HLA SIBLING matched stem cell donor (complications should me minimal) and the child lost her life due to a severe Graft Versus Host Disease in the child’s lungs. Though this was difficult to hear, it was true and we needed to hear it. This in itself was very difficult to hear and accept but we appreciate his candidness more then he will probably know. We must know the good and the bad to try and make a fully educated decision. He did say there are so many things they are doing with cord blood, that many diseases once left untreated, are now being treated. He was just unsure about the potential of treating DMD with cord blood stem cells. He could not however answer the question as to why a cord blood transplant would cure a child that has a genetic mutation lacking a transporter protein (ALD) but it may not cure a child that has a genetic mutation lacking a structural protein (like Gabe - DMD). To his defense, he was not a Neurologist. The mystery continues…Once we were done with our discussion, he stated that no matter what we decide that Gabe’s doctors at UAB will always be there to support him. We now have a call into another one of Gabe’s Neurologist here at UAB to see if she can answer the question mentioned above. They are truly a great facility and we are fortunate to have such a great hospital in Birmingham! We appreciate all of your support, prayers, opinions, and references! We are truly blessed to have the support circle we have and cannot make it through this without you! We pray every night that God will give us the strength and knowledge to make the right decision as He is all knowing and will guide us down the right path. Thanks for everything as we continue to try and make the right decision! Gabe’s Dad
Sunday, May 10, 2009 9:15 PM, CDT I know it has been a while since my last post, but we have been so busy with the Derby for Duchenne, baseball games and 3 of my children’s birthday parties. Crazy!!! The Derby for Duchenne was a huge success and I plan on posting pictures at a later date. As info, we raised over $41,000 with more coming in every day. Thanks to everyone who attended and contributed in some way. You have no idea how much your prayers, generosity, auction items, or your time, meant to us! Words can not describe how Traci and I felt the night of the event as we watched all of the hard work come together successfully, and were able to share it with a lot of our closest friends and relatives! For those who were unable to attend, we had everything from Saban and Chisik signed items, beautiful beach houses at Carillon Beach, paintings from Bham artists, a New Orleans Saints getaway complete with hotel, team signed football, and tickets, to an official NASCAR hood from the #88 National Guard car signed by Dale Earnhardt Jr., Mark Martin, and their entire team. Needless to say, it was a huge success and everyone who contributed to the cause should be very proud! More to come about the Derby…
Back to the transplant for now…we spoke to the parents of the CGD child. The child now has a name and is no longer called the CGD/DMD child in our household, he is called Nate. We spoke to his dad on Friday May 1st. The call came in and when I looked at caller ID, I came so close to not answering it as I did not recognize the number. Something told me to answer the call so I did. When I heard the voice on the other end and after his introduction, I thought I was going to trip and fall as I was running around to find a pen, paper, and Traci. Traci was on the phone with me the whole time and we tried to take notes. Try to picture yourself waiting for the call from Publishers Clearing House and finally getting the call…that is how we felt! Traci and I looked at each other like this was the pot of gold at the end of the rainbow, the golden key! Nate’s dad was so awesome to talk to as he has been there, done that…and he would tell us things in anticipation of our questions as he knew we would ask certain questions since they were and are in the same boat as us. He told us that Nate is climbing stairs by alternating feet (Gabe cannot) but he does have to use his arms to pull himself forward. He also told us that though he can jump, run, hop, ride a bike, and climb stairs, he does most of these tasks awkwardly as compared to his sister. The incredible news is that he was not doing any of this prior to the transplant and is now able to do these things and IS PROGRESSING EVERY SINGLE DAY WITH NO REGRESSION NOTICED BY THE PARENTS OR THE DOCTORS! As a comparison, Gabe cannot pedal a bike, alternate feet when climbing stairs, and runs awkwardly like I assume Nate runs. I have said this before, but it is amazing to me that Nate’s dad stated none of the doctors have him on any medicine for DMD right now and he is about to be 5 years old. Keep in mind that he sees doctors at Harvard, at Duke, in Boston, and in Buffalo and none of them have him on medication. There were many fascinating things that we heard from Nate’s dad but there were three things he said that stood out to me…1) When they tested Nate’s blood before the transplant, it had the Dystrophin abnormality in the blood but post transplant the Dystrophin abnormality was not present and Nate’s behavior has been much better…”if the Dystorphin abnormality is not in the blood, that has got to be something positive.” 2) “If Dr. Kurtzberg came to us tomorrow and said we had to do yet another transplant, we would do it.” 3) “Dr. K is the most caring doctor we have met, and believe me, I have been insulted by the most intelligent doctors in the world, but the fact she is willing to do this on Gabe means she truly believes this will work on Gabe.”
This was a lot to take in as you can imagine but there was more positives then negatives, but there were some negative. He said while they were there on the transplant floor, they saw 2 children pass which weighed really heavy on their hearts. Both children had a severely advanced form of Cancer, but imagine being there with your child and having to witness the deaths of two young children…That is the part that scares Traci and I. There is a 15-20% chance that Gabe may have serious issues from the DONOR stem cell transplant that could include death. We have talked again about having another child in hopes the sibling child is at least a 4/6 match of Gabe as the risk drops SIGNIFICANTLY! There are processes you can do (PGD, PGS, etc.) that can increase the match potential and we have talked to families who have had a baby to save a child…Think about it for a second, is there anything you wouldn’t do to save your child’s life??? I think we all know the answer. We plan to ask Dr. K about PGD/PGS again and if she thinks we should consider it. She already told us no as she felt it would prolong Gabe’s transplant and she believes the younger the better. So I believe I know her answer but we are now at the point where we have asked all the questions, read all the web sites, researched all of the countries, talked to all the doctors, talked to many many parents, have prayed all the prayers (and continue to pray) but there comes a time to make a decision and that is where we are right now. Understand, this impacts so many things…my son was going to be nominated for All Stars in baseball----we declined, both my sons wanted to do a football and golf camp this summer----not signed up, usually my kids are signed up for YMCA camps and vacation bible schools by now----not this summer! Football in the fall----we may not be here as we will have to be a Duke for 5 months if we choose to do this…Granted these are all trivial things that my other kids will get over, but it isn’t fair and it truly sucks, especially as much as I enjoying coaching my children’s teams. If we decide to do it, I will miss all of these things but make no mistake about it…if there is a potential to help/fix my Gabe, all of this will be worth it. Gabe’s Dad
Tuesday, April 21, 2009 9:05 AM, CDT
I typed this up last night, but did not get to post it until this morning. We got some GREAT news yesterday! The results came back for Traci’s genetic test and she is NOT a carrier!!!! Praise the Lord!!! It is about time we get some positive news. This means that my other boy children, Turner (7) and Cooper (5) do not have this horrible disease. It also means that Addison (Gabe’s twin sister) is not a carrier, most likely!!! We need to talk to a geneticist about Addie since she was Gabe’s twin but all signs show that she is most likely not a carrier. They do recommend she get tested as a precaution when she gets older or starts thinking about having children which is a long long way off. Traci called me at work and when I answered she said “baby I am scared!” and she had that sound in her voice. You know the sound…when you can tell someone has been crying. I asked her what was wrong and she said her genetic test had come back. She thought it was a bill from Cincinnati’s Children’s Hospital and when she started to open it, she saw the words Emory Genetics Laboratory at the top and knew that it was her test results so she stopped and called me. I asked her if she wanted me to come home and be with her when she opened it and she thought for a minute and said she was going to open it. She then stopped for a minute and then said o.k. I am going to open it. She then paused for a minute and said, alright here I go. I have never heard such elation in someone’s voice as I did hers at the moment when she read “RESULTS: NO GENETIC MUTATION DETECTED”! She screamed out in joy! It was so awesome. The test went on to say that “this data suggest that a NEW Dystrophin mutation in this family occurred in this individual’s affected son…” This means it started with Gabe and will stop with Gabe! I know many of you probably sensed it but Traci has blamed herself in some way for what has happened to Gabe. I know it sounds crazy, but she did and she has been carrying this heavy burden with her the whole time. Anyway, hopefully this will put her mind at ease and this will give her the peace she has been looking for this whole time. I know it does not change Gabe’s diagnosis, but at least we know our other children are safe and Traci does not have to worry about all of the other complications that come with being a female carrier of the horrible disease. I realize our journey has just begun and it is going to be a long one but when you are reaching for something that seems so far away (a treatment/cure for Gabe) it is the little successes along the way that keep you going. And believe me; this one was not little by any means. This was huge for our entire family. So many of you have been there supporting us along the way and specifically supporting Traci during this time of uncertainty. We could have never gotten to this point without you. Now that this hurdle has been cleared, it is time get ready to clear one more BIG hurdle and we can’t do that without all of the love and support from our friends and family. I say to myself all day long “if we can just fix Gabe, nothing else will matter!” I truly believe in my gut that we have a great shot of doing this and through the support of everyone, we have HOPE. I will be sending an email to Dr. Kurtzberg at Duke and ask her to follow-up with the parents of the CGD child so we can talk to them. That is the last piece of the puzzle and then we will have all the information we need to make a decision. We are very anxious to speak to them! Thank you so much for all of your support and prayers!
Special thanks go out to my sister-in-law, Jo, for the shirt she sent to Traci! It simply says HOPE with the verse from Jeremiah 29:11 "I know the plans I have for you"…
Gabe’s Dad
Tuesday, April 14, 2009 11:10 PM, CDT
Today, our 5 year old son Cooper went to the doctor for a routine check-up regarding the tubes in his ears. Tubes in his ears now….not anything major, just tubes. It appears there is some tissue growing around the tubes so they will not come out on their own and will need to be removed under anesthesia. Today it became more evident then ever how far reaching this Duchenne Muscular Dystrophy thing is! When the nurse practitioner came into the room to ask the usual rounds of questions, you know, is he allergic to any medicine, are there any major issues, is he on any medication, yada yada yada…then came the following question that we have never been asked in 8 years with 4 children. Is their any case of Muscular Dystrophy in the family? Are you kidding me???!!! We have NEVER been asked this ever. I would ask all parents out there have you ever been asked this question. When the answer was yes, he stated that the Dr. would want him tested to see if he has DMD first before removing the tubes as there is a different process for children that have MD. They cannot go under gas but must have an IV for the anesthesia for ANY “surgery” plus other processes must be followed. Understand I also have a 7 year old boy which the nurse said would be the same and would need to be tested!!! He said it will be the same practice until they are around 13 years old. The Dr. came in the room and said that we need to test Coop and Turner. You ready for this???!!! If they test negative, there is still a slight chance they could have it so all doctors will assume the worst and have to utilize the process for DMD children even if my other sons don’t have it. This truly sucks! Traci was tested at Cincinnati Children’s Hospital to see if she was a carrier and we have not heard back yet. If she is not a carrier, then the odds of Coop and Turner being inflicted are slim but they still want us to test Coop. If she is not a carrier based on the test, there is still a slim chance she could be a carrier. Freakin’ crazy!!!! What is the test for then if not to put your mind at 100% ease???? If she is a carrier, there is a 50% chance that all our sons could have it. They are way too athletic and their calve muscles are totally different than Gabe’s. Still…is this a joke? This disease is so horrible that even if my wife tests negative as a carrier, there is still a chance she could be a carrier…why the test then??? We can test our other two boys and they could test negative, but there is still a chance…why test then??? If Traci does tests positive (which I do not think she will as her identical twin sister tested negative), then it is a 100% chance that Addison has it and a 50% chance she passes it on to her boy children and 100% she passes it on to her daughters. I do not want a pity party, but this is not fair!!! All you parents out there, if the tests came back in your favor and it was negative, but there was a 5% chance the test was wrong, you know you would focus on the 5%. Think about it…That is what parents do! What started out as a routine trip to the ear doctor to find out about Coop’s tubes turned in to an upsetting visit as we realized that the potential consequences of this disease touches our entire family. Traci, Turner, Cooper, Addison, Gabe…it sucks! We are confident that Turner and Coop are fine, but as parents, now we have just one more thing to worry about. Once we get back Traci’s results, we will make a decision about testing Coop and Turner as it is painful. If her test comes back negative, that means Gabe’s disease was a genetic mutation that occurred during the pregnancy specific to him with no hereditary contribution and the odds are Addie, Coop, and Turner will be fine. It truly seems that as soon as we get past one hurdle, a larger one pops up. Again, I do not want a pity party, but some of these hurdles are shocking and come out of the blue. The best news of all is that Gabe is just being a little boy! He loves Power Rangers and Transformers and I love to watch him play all by himself as his imagination is awesome. We should know about Traci’s test results soon and whether or not she is a carrier. Please keep the prayers coming and thank you all for your support! Gabe’s Dad
Thursday, April 9, 2009 10:01 PM, CDT
We had our call today with Dr. Kurtzberg from Duke. Wow! What a lot to take in yet again! This call centered on why she feels we should move forward with the umbilical cord blood transplant even though Dr. Kunkel at Harvard has stated otherwise. If you recall, Dr. Kunkel did the biopsy of the child that had both CGD and DMD. His original findings were positive in that the biopsy had donor Dystrophin in the muscle. If you remember, the lack of Dystrophin is what causes DMD. His last email to me said he continues to research and will for about a year but his new findings were not as promising and he did not think we should consider a transplant based on the data from the biopsy. Dr. Kurtzberg disagrees and feels that we should strongly consider it and this is why. She stated that based on the many diseases and disorders she has treated; she believes this will help Gabe. She also stated that a muscle biopsy (like what Dr. Kunkel did), is not necessarily indicative of what is going on in the rest of the body though it is currently the best way to try and gauge the results even though it is not perfect. Most of the feedback I have received from other doctors about diseases treated, like Leukemia, is that you are treating dirty blood with clean blood but with Duchenne’s, you have bad muscles not just blood. Dr. K shared with us that her team has successfully treated nerve disorders (ALD), liver disease, brain disorders (Cerebral Palsy), heart disease, blood diseases (CGD, Leukemia) etc. and the donor umbilical cord blood stem cells have engrafted in these cases and have successfully treated the child. She shared that many of the cases were not just blood diseases but actual organs and muscles were affected yet treated successfully with the transplant. She shared with us that the % of engraftment was significant in many of these cases. However, she said when doing a transplant for a blood disorder, you remove the main pathology. You exchange blood for blood. This is a muscle disease but she feels it will work for all of the aforementioned reasons. She then told us something we have been wanting to hear for some time. She actually recently evaluated the child they “accidentally” treated who had DMD. He was 16 months at the time of transplant and is now 5. He came in on Tuesday and amazing enough, he was clinically normal at age 5. She said he could run, ride a bike (yea!!!), climb stairs, and jump. Most importantly, he does not have the large calves that are typical of a child with DMD, especially a child that is 5 with DMD. His calves are normal and he is showing no regression!!! We asked if he got off the ground with the Gower’s Maneuver and she did not know as she has not circled back around with the MD Neurologist at Duke that evaluated him as well (it was just this past Tuesday and I am sure he is writing it up). The child is being evaluated in Boston, Buffalo, and at Duke and the best news of all, is the child is not on any medicine for DMD and he is 5. Zero, nada and he is able to do the things above. So evidently, his many doctors see no need to have him on steroids, vitamin C supplements, etc. To compare things, when we went to Cincinnati, they wanted to put Gabe on all kinds of meds; specifically steroids immediately even though he was presenting in a mild manner. We have chosen not to go that route until we make our decision about Duke. As I stated before, Duke will do a 2 week evaluation of Gabe prior to agreeing to do the transplant to ensure there are no hidden issues. One of the things that did upset us is part of her protocol will now include a muscle biopsy during her 2 week analysis. A muscle biopsy is quite painful and leaves scarring but this will be part of the process now. It is necessary to successfully understand a baseline and another one will be done in year 2 most likely to see progress. She is currently writing her protocol and will be delivering it to the FDA and the Duke Review Board. This protocol, if approved, will allow her to treat Gabe (in the event we decide to go in this direction). She will use a drug called Fludarabine which is intended to ensure engraftment. This will be a clinical trial when approved by the FDA. She will also use the process I have mentioned before called Aldesort to speed up the engraftment process. It is in a phase 3 clinical trial and she will ask the FDA for a compassion ruling to utilize this on Gabe. There is a process that has come to my attention and I have posted it before. They take Gabe’s bone marrow as a back-up option and store it in the event the new transplant does not engraft. Dr. K shared that they have been doing that for years and would decide after their 2 week evaluation whether that process is needed for Gabe but would do it if we felt strongly about it. If it does not engraft, they use his own bone marrow to “program” him back to his original state. We asked about the percentages of graft-versus-host-disease (GVHD) and if it was sibling, which this is not, it is less than 1%. In our case with a 5/6 donor match, it can be as high as 20% (but not what you would think). 20% is for any signs of GVHD like a rash, fever, etc. so the 20% can be misleading. For serious GVHD, it is in the 5-10% range which is still low but when it is your child, 1% is too high. I know this is a ton of info to take in at once. I do a ton of research and just writing this is overwhelming. I hope and think I have captured everything as this is a great release for me! We will be talking to the parents of the child that has been treated soon and will try to make our decision after we have that conversation with them. I am leaning one way and Traci is not quite there yet but I do think she understands that this is our HOPE and if we do nothing, we know what the outcome will be for our Gabey based on information we have today. But I am so proud of her! She continues to amaze me with her strength and openness. She continues to listen with an open mind and asks unbelievable questions! All you moms out there put yourself in her shoes. It is difficult for her to consider anything that would voluntarily put our Gabey through significant pain…even if it is for a greater good. I cannot imagine going through something like this without her! We balance each other and though I probably don’t say it enough, I am blessed to have her as my wife and my children’s mom. Together we will make the right decision...whatever it may be. Thank you Traci and I love you! Gabe’s Dad
Sunday, April 5, 2009 10:23 PM, CDT
We had an awesome Saturday! We all walked as a family for a friend of the family, Sebastian Lemos while wearing our Cubs gear. Sebastian was a 7 year old little boy that was on my Cubs baseball team. What a great kid! He never complained one time though he was battling Cancer all over his body. What an incredible way to celebrate Sebastian's life by being with everyone he touched! It was an awesome day! That reiterates my question, WHY? This morning, Traci woke up crying (which she does often) asking the question we continue to ask, WHY? This is something that I fully believe we will know the answer to someday. I know many folks say that we may not know the WHY right away but need to be patient. Anyone who knows me knows I am not patient. So I am ready to know the Why? I never thought that when my children went to bed, part of their nightly ritual when saying prayers would be the words “and dear Lord, please make Gabey’s muscles well!” It is very hard when Gabe says it himself as you can imagine. It seems as if everyday that goes by, the rollercoaster of emotions continues. Tonight I had some positive correspondence with a Dr. from Rutgers that believes in what Dr. Kurtzberg at Duke is saying. What he had to say was extremely positive and reinforces what Dr. Kurtzberg at Duke shared with us on our visit to Duke and makes me more impatient for our call with her this Thursday, April 9. For those of you that would like to know what the Dr. at Rutgers said as I know there are many doctors and folks in the medical field following Gabe’s journey, here is what he said:
“Re: Muscular Dystrophy
The studies that have reported effective treatments with umbilical cord blood for muscular dystrophy have used HLA-matched (which Gabe has a 5/6 match) (or sibling cord blood) that do not have the muscular dystrophy gene and used myeloablation (this definition is chemotherapy to wipe out the immune system of a child in order to replace it with a donor’s system)...They have also demonstrated engraftment in that the blood type and HLA of the blood changes to the donor type. This is proof that the cells have engrafted. All these studies used myeloablation. If you do not do myeloablation, the cells are very unlikely to engraft.
Note that if donor cell engraftment is successful, the bone marrow will thereafter produce mesenchymal stem cells that have the donor genes and therefore the cells will gradually replace the myoblasts in the muscle and therefore the muscles. Over time, the muscles will be replaced by muscles without the muscular dystrophy gene. Like all treatments of genetic disorders, the stem cells must come from a donor that does not have the genetic deficit. There is no point in transplanting cells that have the same genetic deficit.
The main question that is unanswered is the extent to which myeloablation (Chemo) should be carried out. If one does what is called "mini-myeloablation", i.e. that kills many but not all the bone marrow stem cells, the donor cells will engraft and you will get a mixture of bone marrow cells that produce the donor and recipient stem cells. This may be all right because the donor cells may be stronger and eventually the cells will be replaced by the healthy ones. It is likely that this will work for all the different types of muscular dystrophy, including limb girdle.
Note that only one group (in China) have reported successful use of cord blood engraftment to treat muscular dystrophy. Why has this been tried so little? For a long time, myeloablation and failure to engraft carried a relatively high mortality of 5-10%. This was considered to be too high a risk. However, in recent years, gentler myeloablation methods and better engraftment procedures (Dr. K wants to petition the FDA in order to use a process called Aldesort on Gabe which increases engraftment percentages) have resulted in 95% or greater engraftment rates. Furthermore, doctors are now taking out some of the bone marrow of the recipient and storing the cells before the myeloablation, in case engraftment does not occur. In such cases, the bone marrow can be re-transplanted back into the patient. A recent series of umbilical cord blood transplants being used to treat thalamessia have shown zero mortality.”
The problem with the above, is it is just one more expert’s opinion that he believes this will work. We are so fortunate in this country to have so many brilliant doctors that are truly trying to find the answers to some of the most difficult medical mysteries out there. It is just so tough as a parent to try and weed through all of the data and opinions and try to make the right decision for Gabe. I have some Drs. telling us they do not believe we should do it and I have some Drs. telling us it will work and all of these Drs. are world renowned. I pray every night that God will give me the strength to make the right decision. But what if we don’t make the right decision??? What if we believe we are making the right decision based on God’s direction but something goes wrong??? Did we not understand God’s guidance ??? As I type this, I sit here with my hands on my forehead thinking through this whole process. It is not like going to the doctor to get stitches because Gabe fell and got hurt. This is essentially redesigning him in hope that the donor (a person he will never know) can help him beat this yet to be beaten disease. Am I crazy to believe Gabe is THE ONE TO BEAT THIS??? I pray every night that I am not crazy...Gabe’s Dad
Wednesday, April 1, 2009 10:26 PM, CDT
I want to start by thanking everyone for their thoughts and prayers. The many churches that have posted on this site, the friends and family that post and send cards as well. Not a week goes by that we don't receive a few cards at home from a church saying they prayed for Gabe today. There are only two things we have going right now; prayers and hope. Those are the two things that keep us going so thank you for every prayer, kind word, wishful thought, etc.! In line with the word hope, Traci and I have joined the Board at The Muscular Dystrophy Association and are proud to be part of a fundraiser that is the first of its kind. The fundraiser is called Derby for Duchenne (which is Gabe's disease) and will be held on May 2nd at The Wine Loft in downtown Birmingham. Many folks continue to ask what they can do to help and this is definitely something we could use help with at the moment. This will be a Kentucky Derby theme since May 2nd is Derby Day. We need as much help as possible with silent auction items, ticket sales, etc. If you own a business or know someone who owns a business that would be willing to donate some items to the Derby, that would be incredible. The Derby is tax deductible and we can provide a 501C3 to the person providing the auction item. We also would like to invite all of you to attend the Derby for Duchenne event. We would love to see you there. For more information about the derby, please see www.derbyforduchenne.com. If you have questions, want to donate some items to the event, or would like to purchase tickets, please email us at scottandtraci@bellsouth.net. Thank you all in advance for ANY help you can provide. No item is too small or too large. Many items may be bundled with other items to solicit high bids. 100% of the money raised will go to the research of Duchenne Muscular Dystrophy which has never been done before. Typically it goes into a larger Muscular Dystrophy bucket and the money is split among the many Muscular Dystrophies. The money raised at this event however, will go directly to the research of Duchenne MD. Your help with this event would go farther than you can ever imagine. Not only would this help Gabe, but all of the other children that have this horrible disease. Please let us know if you have any questions. Again, we can provide a 501C3 if needed. Please just send us an email. Thanks for all of your support and prayers! Gabe’s Dad
Thursday, March 26, 2009 7:48 PM, CDT
It has been a stressful week as we are anxious to talk to Dr. Kurtzberg at Duke since she still recommends we should strongly consider the umbilical cord blood transplant though Dr. Kunkel at Harvard thinks otherwise. As you can imagine, Dr. Kurtzberg is extremely busy and travels the world to speak quite a bit. As a result, she will not be available until Thursday, April 9th and that is when our conference call is scheduled. The days will go by way too slow as we are ready to hear why she thinks this will still work! We anxiously await this call! Quite frankly, I am ready to have enough information to make a decision so we can move forward one way or another. Traci may disagree with my previous statement, but the roller coaster simply eats at you day by day. One day you believe one thing and the next, you are not so sure. I truly believe that God has put Gabe in this place to make believers out of everyone through his victory over this disease. That day cannot come soon enough...Thank you for all your thoughts and prayers. It is amazing to us that so many friends have posted on this site as well as so many folks we don't know. Each time we read the guestbook, it sends chills all over my body and helps to get me through the day. Please keep them coming as it has been unbelievable! Gabe's Dad
Friday, March 20, 2009 9:43 PM, CDT Before I update the journal, I wanted to start by asking everyone that visits this site to pray for a little boy named Wilson Rowlen. Wilson
is a 5 year old fighter that is on my baseball team and happens to be one of Cooper's (one of my sons) best friends. He was recently diagnosed with Lymphoma and through prayer; we can beat this for the little guy! Even though this reinforces my question as to "WHY???”. I truly believe in the power of prayer. I hope to one day know the "WHY???”. Thank you all!! As an update to Gabe's journey, we received the answers from Dr. Kunkel at Harvard about a week ago. The answers were not too positive and I did not post them immediately for that reason as I wanted it all to soak in. I also wanted to talk to Dr. Kurtzeberg at Duke first as she had not seen this update from Dr. Kunkel. She had major email problems, as we can all relate, but when she finally responded, I was shocked by her response. I fully expected her to say that in light of this new information, we should not move forward. But on the contrary, she said she felt like we should still strongly consider the transplant option and wanted to talk to us again real time on the phone as it was complex, but she felt it would work. You can imagine our confusion and dilemma when we have Dr. Kunkel at Harvard, the doctor who discovered the DMD mutation in the late '80s, saying he does not see a reason to do the transplant based on his analysis of the CGD child's muscle biopsy, but Dr. Kurtzberg at Duke is saying the opposite. She is world renowned and has cured so many horrible diseases that others thought would be impossible and she believes this could benefit Gabe. As info, Dr. Kurtzberg treated the child with Cerebral Palsy that appeared on the Today Show, Oprah, and The Doctors and he is said to be close to cured. She is amazing as this is among many of the children she has successfully treated and/or cured. I do not know why she believes we should still move forward with the transplant even though Dr. Kunkel (the father of DMD) said he did not see a benefit. We should find out the reason why she believes this in the next week. I have asked her for a conference call with our doctors to talk through why she feels this will be a success for Gabe even though Dr. Kunkel thinks otherwise. A good friend of mine that does research told me that scientists (like Dr. Kunkel) look at nothing but numbers and he is basing his opinion on the muscle biopsy of the thigh of the CGD child. He also told me that in many cases, you need to strongly consider how the child is doing clinically. This child is currently clinically normal and is almost 5. Maybe I am reaching or dreaming, but that is something I am strongly looking at now. Why is he clinically normal??? I pray every night that God gives me the strength to understand WHY little children like Gabe, Wilson and others must go through this pain. I fully am of the belief that there is a reason for everything and a reason WHY things happen. I am ready to know the WHY! May God bless the Rowlens!!!...Gabe's Dad (Coach Scott)
Wednesday, March 11, 2009 10:35 PM, CDT Just a quick note...I emailed Dr. Kunkel at Harvard tonight. He is the doctor that did the muscle biopsy on the CGD child that also had DMD. I asked him the following questions:
1) How much donor Dystrophin was in the muscle biopsy (5%, 10%, 20%, etc.)?2) How did you know that it was all donor Dystrophin and that none of it was contributed by the child himself?3) Based on the biopsy, do you know or feel that the Dystrophin is throughout the body including the heart wall?4) Would you say the amount of Dystrophin found is in the "useful range"?5) How much donor Dystrophin was found and was it the protein or the messenger RNA, and, in either case, how much?6) Do you believe there is reason to believe this will work in another child? I know Dr. K recently "cured" a child with ALD which conceptually they seem similar.
I will let everyone know his response. Please pray it is a positive response as this is all we have currently. This is one of the last items Traci and I need addressed to start the process of trying to make an educated decision about the transplant at Duke. More to come…
I dream about Gabe every night. Some are great dreams and some are not so great. Last night I had a "melt down" after watching Gabe's video. It was much needed. I cannot recall a time that I have ever cried so hard for so long...even as a child. Traci held me in her arms and cried with me. I went to Gabe's bedside and held is "moon boots" and prayed for this dreaded disease to go away! He looks so healthy, this is just crazy!!! Some times having a moment like that re-energizes you and makes you stronger and more determined than ever! That is how I feel now. I know this sounds strange, but afterwards, it actually felt good having a major cry like that. I think it is healthy from time-to-time. Traci was wonderful last night. She is amazing and if Gabe is forced to go through something like this, I could never ask for a better partner in attacking this disease! I love her all my heart...Gabe's Dad
Tuesday, March 10, 2009 5:34 PM, CDT
Please click HERE to see a video about our precious Gabe. I recently read an article and journal where Dr. Kurtzberg (Dr. K) successfully treated a child with ALD via an umbilical cord blood transplant. Out of curiosity, I am interested in knowing from a conceptual perspective, how similar is ALD to DMD (conceptually)? I realize these are totally two different diseases. I know this sounds crazy but ALD is impacted by the breakdown of the myelin sheath (membrane) around the nerves via the lack of a protein called a transporter protein and DMD is the breakdown of the membrane around the muscle via the lack of a protein called Dystrophin.
{Adrenoleukodystrophy (ALD), is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is one disease in a group of inherited disorders called leukodystrophies. Adrenoleukodystrophy progressively damages the myelin (membrane), a complex fatty neural tissue that insulates many nerves of the central and peripheral nervous systems. Without myelin, nerves are unable to conduct an impulse, leading to increasing disability as myelin destruction increases and intensifies. An essential protein, called a transporter protein, is missing in sufferers. This protein is needed to carry an enzyme which is used to break down very long-chain fatty acids found in the normal diet. Lack of this protein can give rise to a build-up of very long-chain fatty acids, (VLCFA) in the body which can damage the brain and the adrenal gland.
DMD – is an inherited disorder in which Dystrophin is part of a complex structure involving several other protein components. The "dystrophin-glycoprotein complex" helps anchor the structural skeleton within the muscle cells, through the outer membrane of each cell, to the tissue framework that surrounds each cell. Due to defects in this assembly and missing Dystrophin, contraction of the muscle leads to disruption of the outer membrane of the muscle cells and eventual weakening and wasting of the muscle. Muscles are unable to rebuild.}
I have asked Dr. K the following "Conceptually, from a transplant perspective and what the stem cells were able to do in the ALD child could this be used as another case that should support the treatment of a DMD child via this transplant? Especially when you consider your success with the CGD child you already transplanted that also had DMD." I anxiously await her response. I will also be trying to contact Dr. Kunkel tomorrow since I have not heard anything through any of the other avenues I have tried. What do I have to lose right? Thanks for the continued support...Gabe's Dad
Thursday, March 5, 2009 9:35 PM, CST
Well, we made it home! It was a long trip, but Traci and I took our time enjoying every moment we had with Gabe alone. We stopped in Cave City, KY
and took him to Dinosaur World! It was kind of cheesy, but he loved it. He talked about it for the next two hours..."Mommy/Daddy, where the dinosaurs?" It was awesome. If you ever find yourself in Cave City, KY , I highly recommend you check it out, but don't be too anxious! We also stopped at the Alabama welcome center so Gabe could see the huge rocket just outside of Huntsville. He thought that was amazing and now wants to be an astronaut. He said he already has the "moon boots". These are the orthopedic boots he has to sleep in at night to stretch his muscles. We all refer to them as his "moon boots". Anyway, as you can imagine, the trip back gave us a bunch of time to reflect on our visit to Cincinnati Children's and reflect on our journey to date with Gabe and what lies ahead. As you can imagine, the discussions were tough but needed. I am working with some folks that have other foundations and have way more funds than we do. They actually have researchers on payroll working on their behalf and to defeat this DMD beast. They have committed to me to have their researchers talk to Dr. Kunkel at Harvard about the muscle biopsy of the CGD child that Dr. Kurtzberg treated with umbilical stem cells. As I was recently told, everyone has an agenda, most doctors included, but the parents of children with DMD all have the same agenda, save their child at all cost! I am hopeful that in the next few days, I have some information from Dr. Kunkel. Keep your fingers crossed! Once we got back, there was an incredible rush for the door by Turner and Addie (Coop was at baseball). They ran right by Mommy and Daddy and went straight to their Gabey. It was an awesome sight. Coop got home shortly after that and forget Mommy and Daddy, it was all about Gabey. I think they understand that something is different with Gabe. Turner and Coop actually made comments like "did you get Gabey's muscles fixed while you were in Cincinnati?" They love him so much!!! I will write more as I have additional information. But in the meantime, thank you all for your thoughts and prayers. We can feel the love and our family needs it. The toughest of times lie ahead and we need to be educated enough to address them. No matter what decision we make. Please check back...Gabe's Dad
Wednesday, March 4, 2009 6:52 PM, CST Today was a tough day. Traci got tested to see if she was a carrier (she won't find out for 3 weeks) and Gabe got a blood test to establish a baseline going forward. He also had to get an X-ray of his hand to measure bone thickness as DMD patient’s hands tend to draw up as the disease progresses. He already has a little draw up of his fingers when his arm is extended (palm on a table and extending the arm straight up off the table). He bends his fingers off of the table just a little bit to accommodate the tight muscles. The toughest thing on this trip was seeing all of the other children with this disease. Though we have been to our clinic in Bham, there are not near the children there that visit Cincinnati Children's. The varying ages are so tough to see. And to think that we do not know when this could progress to what point down the road. The unknown is one of the most difficult things of this disease. To look at his adorable face and to wonder, when will it start changing? One of the things Traci and I noticed on this trip is that the faces of all the older children change so dramatically due to the dying muscles. It literally tears me up inside to know that my child's beautiful face could turn into one that reflects pain and struggle through the various muscles that go away and draw up. It was a very tough thing to attempt to accept and we have not fully come to terms with that yet. The tough part about today was our blood test scheduling was all messed up and we had to wait over 2 1/2 hours for the order to get to the hematology department. Gabe was again an ANGEL! Not once did we have to correct him or ask him not to do something. We are so proud of him as he is growing into such a fine little boy! It helps that Turner, Cooper, and Addie were not here to antagonize him or to be antagonized :-}. Dr. Wong's care coordinator (Wendy Bommer) came down and talked to us after the blood scheduling mess up. What an awesome lady. She has an incredible gift of listening. We stressed our concern that there may be a lack of willingness for the doctors to simply pick up the phone and make a call to Duke and Dr. Kurtzberg to discuss the CGD boy and what they did at duke with the transplant. She truly listened and said she would bring it up again in their staff meeting. We explained that we were not looking for anyone to bless what we are considering, but we just wanted someone to take ALL of the DMD boys into consideration and pick up the phone and have a call with Dr. K at Duke and Dr. Kunkel at Harvard and become educated on what they have done in the CGD child and his DMD. A simple phone call...that is it. At the end of the call, their opinion may be that no one should do this but at least they are making an educated decision. I explained to her that in the female CP patient that Dr. K transplanted, 10 months after the transplant over 50% of the cells in the ssubject’s brain were the umbilical stem cells of the little boy engrafted in the brain and were working. In a little boy with a heart disease, after month 10, over 40% of the umbilical stem cells were that of a little girl donor and were engrafted and working to repair the damage in the heart muscle wall. But the amazing thing is when they looked in the CP patient’s heart, the stem cells were not there, they were only in the brain working as that was where the damage was and her heart was normal. Conversely, when they looked at the brain of the little boy who had the heart problem, there were none in his brain as it was normal but they were in the heart. I know this is hard to follow but believe me, this is remarkable and I think this is what is being overlooked by many folks. The umbilical cord blood stem cells are "programmed" to go where the damage is located. This is why they work in so many other diseases in which the transplant is utilized. Absolutely incredible! My hope is that they find this intriguing enough to pursue further. She understood our concern and heard us loud and clear so hopefully she will be able to accomplish something positive. In the meantime, we shall continue to move forward with more research and I am going to try and reach out to Dr. Kunkel myself. What do I have to lose, right???! We will be leaving to head back to Birmingham tomorrow since our Thursday meetings were all canceled. Another disappointing part of the trip as the genetic doctor is on vacation in Mexico and the nutritionist is on maternity leave. We have TRULY enjoyed every moment with Gabe on this trip as we both have not been with just him for this long. What an unbelievable and incredibly strong little boy! I wish everyday that he could transfer his strength, innocence, and perseverance to me. He is what gets me up in the morning and keeps me going late at night. As we say in our house, I love you all my heart Gabe...Gabe's Dad
Tuesday, March 3, 2009 9:45 PM, CST
Today was SOOOO overwhelming! We arrived at Cincinnati Children's around 8:15 EST for our first appt which was PT. The PT was an informative session about what type of stretches we can do for Gabe and how to keep him walking as long as possible. As you can imagine, some of the information was not so positive as Gabe did not like having his leg muscles stretched. The PT thought Gabe's night leg braces were a good fit and she was thrilled that Gabe has been wearing them for the last 2 months. He wants to get his sister some pink "moon boots" and his friend Beau some "star wars" boots. He doesn't have a clue! At 10:30 we had a dr. appt with Dr. Wong’s partner, Dr. Pierre. He was awesome. Gabe really took to him. We talked about alot of things including the potential transplant at Duke and he did not seem too receptive. He was unaware of many of the things Dr. Kurtzberg at Duke had done including her CP treatment with umbilical cord blood stem cells (which aired on the Today Show, Oprah, The Doctors) but remained open-minded. He actually is interviewing for a job at UAB and Children's Hospital!!!! Let's ALL hope he gets it as he would bring a wealth of knowledge to the neuromuscular clinic at Children's. In the afternoon, we met with Dr. Wong. She is awesome! She evaluated Gabe and the GREAT news is that she and Dr. Pierre both thought Gabe was expressing a mild case of DMD as he could jump, was fast getting off the ground and could run pretty decent. This is good news even though it does not change the outcome. It just means that he has not progressed as far as other children his age. We attribute that to having 3 siblings :-} We spoke to Dr. Wong about Duke and the potential of an umbilical cord blood transplant and initially she was also not too receptive. She was under the impression that what we were referring to was something Dr. Kurtzberg did in Boston years ago. Once I explained to her this was discovered about 8 weeks ago via a muscle biopsy at Harvard by Dr. Kunkel, she was astounded and curious. Long story short, she is willing to work and talk to Dr. Kurtzberg going forward as we decide on the transplant potential at Duke. This is not only a good news story for Gabe, but for all DMD patients! Tomorrow Traci goes to get tested to see if she is a carrier and whether or not Gabe got it from her or if it was a random mutation that just took place during pregnancy. The results will be the lesser of two evils as you can probably imagine. Gabe will also be tested to see what his vitamin D and Calcium levels are currently. Because we were not able to meet with the genetics doctor or nutritionist on Thursday as they had conflicts, we will probably head home early. It is rare that we only have Gabe with us so we will probably stop along the way to do something special with just Gabe. As info, if any of you moms have gone to a doctor or Children's in Bham on the weekend or after hours and have seen your child go nuts while waiting all the long hours to see a doctor then you will appreciate this comment. My Gabe was an absolute angel ALL day starting at 8:15 est and going until 5:00 est without an issue. He was incredible but passed out when we got to the hotel room after we went swimming! He is my hero! Gabe's Dad
Tuesday, February 24, 2009 8:51 PM, CST
We leave Monday (3/2/09) for the entire week to go to Cincinnati Children’s Hospital to meet with Dr. Wong. She is a world renowned DMD doctor and we have had this scheduled since last year. This is unrelated to our Duke trip, but the Drs. at Duke fully believe this will be a great trip to get an idea of how strong Gabe is in the event we move forward with the transplant. This will include meetings with cardiologists, pulmonologist, PTs, OTs, Speech Pathologists, and anyone else I may have left off the list. The great news is after this week, we should have an idea of just how ready Gabe would be for a transplant in the event we move forward! It is important to understand what is involved in the transplant and why he needs to be extremely strong. Here is the scary process as it was described to us at Duke. He will undergo a detailed 2 week evaluation where they look in every nook and cranny of his body for any infection, tumors, etc. They are looking for anything that could impact the transplant. On day 13, they would start chemotherapy for 12 days. As you can imagine, chemo could be life threatening itself. This chemo will wipe out his bone marrow and his white blood cell count will be zero. The doctors are going to petition the FDA for a compassion ruling that will allow them to utilize a procedure called Aldasort that is not currently FDA approved. It is in a Phase III human trial and has been extremely successful to date. If granted (which they feel certain it will be) it will speed up the engraftment process of white blood cells from 27 days to 20 days and of the platelets from 60 - 90 days to 43 days reducing the risk of infection. On day 13, they will do the transplant. They said it is very anti-climatic...just a simple blood transfusion for about 15 mins. For the next 3 weeks, the effects of chemo present...vomiting, diarrhea, sores in the mouth, severe pains in the stomach and let's all hope nothing else as what I have mentioned here is not considered life threatening. Traci and I will have to be with him 24 hours a day. She will take 12 hours in the morning so I can continue to work and then I will take 12 hours at night and spend the night with him. Again, this is if we decide to do this transplant. He will pretty much live in a bubble for 55 to 60 days at Duke University. If all goes well, we can move him to our temporary home at Duke where we must stay for approximately 5 months. Thanks to Grammy and family for agreeing to all pitch in and help out with Turner, Cooper, and Addie!! The total recovery period if everything goes well is about 2 years. We pray everyday for guidance from Him as this is not what we signed up for as parents. As they say, we did not ask to be dealt these cards, but we must play them. Thanks for everything...Gabe's Dad
Monday, February 16, 2009 9:04 PM, CST
We set up a meeting with the Drs. at Duke this past Monday (2/16) and learned that she believes by utilizing the donor stem cells, the donor stem cells will engraft in Gabe's muscles and produce donor Dystrophin (which is what Gabe lacks and causes DMD). We spent all day at Duke with the Dr. and touring the facility. It was an overwhelming day but we believe we now at least have a choice. Gabe would be the first child in America in which they have utilized this process to "intentionally" treat DMD. We are excited and scared but though we have not made our decision they are moving forward with getting FDA approval, medical review board approval, drafting protocol, etc. in the event we do move forward. Though there is a risk of graft versus host disease and a chance of infection, Traci is more optimistic then I have ever seen her throughout this and I am so proud of her. We compliment each other well and need each other to get through this. We also need all of you as well. Thank you for your thoughts and prayers. I know the original post to bring everyone up to speed was a long one (My Story) along with the first Journal post (dated 6/15), but you should now be up to speed of our entire journey to date and we will do our best to update going forward day by day as we receive news. Thanks for checking in...Gabe's Dad
Sunday, June 15, 2008 8:57 PM, CDT
After we found that Gabe may have MD, we contacted our incredible pediatrician Dr. Jamie Odrezin and requested that a CPK test be performed. She sent off the test and we waited the results knowing that he DOES NOT HAVE IT! The test came back and we knew it immediately in Dr. Jamie's hello. The normal range is 0 - 190 and his came back at 20,000+. Our world, hopes, dreams, as we knew it just ended with one phone call and 5 words, "he has Duchenne’s muscular dystrophy"...I still picture very day Traci curled up in the fetal position screaming at the top of her lungs, not my little Gabey! Not my little Gabey! We both cried the rest of the day but as the dad, it is my job to make thing right. I knew we had one thing on our side and that was we kept 3 of our children's umbilical cord blood when they were born (Cooper, Addie, and Gabe). We did not know about it when Turner was born or we would have kept his as well. Finally as parents we did something special that could save our child's life. Immediately I went into research mode and the first night was up until 4 in the morning researching umbilical cord blood stem cell transplants to treat MD. Surprisingly, I found adult stem cell and embryonic stem cell research to reverse DMD in lad rats and dogs. One doctor was in Italy and one was in Houston. I contacted both immediately and they responded quickly both saying that this is far from being ready for humans and their human trials will start with 6 or 7 year old boys, Gabe is 3. Still holding out for hope. Every night I Google, yahoo, search WebMD, every night until the wee hours of the morning and it eventually paid off. I joined a blog of doctors and acted like a doctor who had written up his case about Gabe. A doctor from Rutgers who treats spinal cord injuries and brain injuries with umbilical cord blood stem cells suggested I contact a Dr. at Duke who has had many many successes using these to reverse Fanconi's Anemia, cerebral palsy, Leukemia, CGD, etc. I sent her an email on Jan. 3, 2009 explaining we had all of these stem cells and she responded within 15 mins saying she felt they could help. I ran upstairs and screamed at the top of my lungs we have HOPE, we have HOPE! We contacted our pediatrician and set up a conference call with the doctor at Duke and Dr. Odrezin. The call went well. She informed us that they "accidentally" reversed DMD in a child that had CGD. The DMD was downstream from the CGD mutation. She felt like this would work for Gabe. The next step was to do HLA Low Transparency Typing for Cooper and Addie to see if they match Gabe. Dr. Jamie was incredible and scheduled it in two days. The blood was sent off and we needed to get at least a 4 out of 6 gene match for the stem cells to work from Addie or Cooper for Gabe. We just knew we were going to get a break. The test results came back and Addie was a 3/6 and Cooper was a 0/6...NO MATCH! We were devastated again. Like getting the news of the DMD all over again. The Dr. at Duke said we could still find someone who donated their child's cord blood (an unrelated umbilical cord blood stem cell donor). She proceeded with an international search and found several 5/6 matches for Gabe. The rollercoaster of emotions continues and now we are on a high. Thanks for your support! Gabe's Dad
Gabe's Story - The Beginning...
This all started when Gabe was just a baby. When we would place him in the crib in the morning he was exactly in the same position as when we put him down. His twin sister was moving all over the crib, but not Gabe. Traci immediately had concerns but we were told he was a twin boy and was probably delayed from his twin sister. He finally started rolling over and crawling but his hands and arms would give out and he was hitting his head on the hard wood floors alot. So much, he was wearing a toboggan as cushion when he would crawl to protect his head. At 15 months, Gabe had been walking about 2 months but was falling down alot. His legs appeared to be giving out and his head would continue to take the punishment. The toboggan could only help so much. We knew that something just didn't seem right. Traci demanded action so a C-Scan (partial) MRI was done. Nothing showed up, but as they were getting Gabe out of the MRI, the machine was still running and captured something. Another MRI was scheduled at a later date and as a result, it picked up a Sryinx (fluid filled cyst) on Gabe's spine at T3. At last we had our answer, or so we thought. Gabe's neurosurgeon, Dr. Oakes, has some concern because he was so young but did not see a correlation between Gabe falling and the Syrinx. We still believed we had our answer. A MRI was scheduled 6 months out to see if it was getting larger or smaller. His concern was if getting larger, then spinal surgery may be needed at a later date. Fortunately, the Syrinx was getting smaller at the 6 month MRI. Another MRI was scheduled for 12 months out. During the next 12 months, Gabe continued to exhibit some strange symptoms that we related to the Syrinx. All along, we were being told by friends, family, etc. that Gabe was a boy twin and was simply "delayed" like most boy twins. Traci started to notice a delay in specific areas, motor and verbal skills (specifically jumping, climbing stairs, running, and a speech delay). Traci is unbelievable! She would not rest so we got services in our house for PT, Speech, etc. She is amazing. Gabe started showing a significant improvement in all areas. We were finally feeling better about our son! In the mean time, the 12 months had come and gone and we had another MRI done and it was getting even smaller. The risk no longer existed according to Dr. Oakes. After Gabe turned 3, we had him tested in order to continue to get the services in our home. After we had Gabe tested but had not received the results, our neighbor who happens to be an OT was baby sitting Gabe and noticed how he got up off of the floor. It is called the Gower's Sign. The child gets up by sticking his bottom into the air and uses his hands to walk up his legs in order to stand up. This evidently is a dead ringer sign for Muscular Dystrophy (MD) in the medical community. She did not tell us immediately because as you can imagine, that is something extremely hard to break to your closest friends and neighbors. After a few days and under some tears, she approached Traci and asked if we had ever had him tested for MD. Traci was shocked as no one had ever mentioned that term to us before....ever. If you know my wife, you know what comes next...late nights on Google, WebMD, and the Internet researching literally thousands of sights for information. There is no way this could be true. All we knew was "Jerry's Kids" and wheelchair bound children. But as the research came in, no one in our household was ready for what we were finding. A terminal disease with no cure and a life expectancy in the late teens, early twenties. You have got to be kidding us...a little boy who has a twin sister born to an identical twin (Traci), born with a Syrinx, and born with MD. We just did not believe it. After we received the opinion of our neighbor, the test results came back and Gabe graded off the charts with a motor skill percentage in the 95th percentile. They laughed and said he did not qualify for in home services as he was so far advanced. What a great story!!! We did not believe he had MD and at this point, Traci said I know he does not have it, let's get this over and have him tested. What a strong lady! Have I said how proud I am of her!!...Gabe's Dad
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